A. Clarke and D. I. Phillips, Clinical aspects of X-linked hypohidrotic ectodermal dysplasia, Arch Dis Child, vol.62, issue.10, p.989, 1987.

S. Lefebvre and M. Mikkola, Ectodysplasin research-where to next?, Semin Immunol, vol.26, pp.220-228, 2014.

T. Kuramoto, M. Yokoe, R. Hashimoto, H. Hiai, and T. Serikawa, A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene, BMC Genet, vol.12, pp.1-8, 2011.

D. Waluk, G. Zur, R. Kaufmann, M. Welle, V. Jagannathan et al., A splice defect in the EDA gene in dogs with an X-linked Hypohidrotic ectodermal dysplasia (XLHED) phenotype, G3: Genes|Genomes|Genetics, vol.6, pp.2949-54, 2016.

C. Drögemüller, H. Kuiper, M. Peters, S. Guionaud, O. Distl et al., Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis, Vet Dermatol, vol.13, pp.307-320, 2002.

F. Seeliger, C. Drögemüller, P. Tegtmeier, W. Baumgärtner, O. Distl et al., Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic Rhinotracheitis, J Comp Pathol, vol.132, pp.346-355, 2005.

A. Zankl, M. Addor, P. Cousin, A. Gaide, F. Gudinchet et al., Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t (X;9) translocation with probable disruption of the EDA gene, Eur J Pediatr, vol.160, pp.296-305, 2001.

C. Cluzeau, S. Hadj-rabia, M. Jambou, S. Mansour, P. Guigue et al., Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases, Hum Mutat, vol.32, pp.70-72, 2011.
URL : https://hal.archives-ouvertes.fr/hal-00599475

C. Tziotzios, G. Petrof, L. Liu, A. Verma, E. K. Wedgeworth et al., Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome, Br J Dermatol, vol.171, pp.1211-1215, 2014.

M. Gordon and R. Nusse, Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors, J Biol Chem, vol.281, pp.22429-22462, 2006.

B. Zeng, X. Xiao, S. Li, H. Lu, J. Lu et al., Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven Hypohidrotic ectodermal dysplasia patients, Genes, vol.7, p.65, 2016.

S. Wi?niewski, A. Kobielak, W. Trzeciak, and K. Kobielak, Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin a and its two receptors, J Appl Genet, vol.43, pp.97-107, 2002.

C. Cui and D. Schlessinger, EDA signaling and skin appendage development, Cell Cycle, vol.5, issue.21, p.2477, 2006.

P. Karlskov-mortensen, S. Cirera, O. L. Nielsen, J. Arnbjerg, J. Reibel et al., Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle, Anim Genet, vol.42, pp.578-84, 2011.

S. Cambiaghi, L. Restano, K. Pääkkönen, R. Caputo, and J. Kere, Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia, Arch Dermatol, vol.136, pp.217-241, 2000.

C. S. Barlund, E. G. Clark, T. Leeb, C. Drögemüller, and C. W. Palmer, Congenital hypotrichosis and partial anodontia in a crossbred beef calf, Can Vet J, vol.48, pp.612-616, 2007.

A. Ogino, N. Kohama, S. Ishikawa, K. Tomita, S. Nonaka et al., A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle, Hereditas, vol.148, pp.46-55, 2011.

H. Daetwyler, A. Capitan, H. Pausch, P. Stothard, . Van-br et al., Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle, Nat Genet, vol.46, 2014.
URL : https://hal.archives-ouvertes.fr/hal-01193853

A. Bouwman, H. Daetwyler, A. Chamberlain, C. Ponce, M. Sargolzaei et al., Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals, Nat Genet, vol.50, pp.362-369, 2018.
URL : https://hal.archives-ouvertes.fr/hal-02628780

P. Michot, O. Fantini, R. Braque, A. Allais-bonnet, R. Saintilan et al., Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa, Genet Sel Evol, vol.47, pp.1-7, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01194111

J. Robinson, H. Thorvaldsdóttir, W. Winckler, M. Guttman, E. Lander et al., Integrative genomics viewer, Nat Biotechnol, vol.29, p.24, 2011.

I. G. Hastings and J. Lupski, A microhomology-mediated break-induced replication model for the origin of human copy number variation, PLoS Genet, vol.5, p.1000327, 2009.

E. Sonnhammer and R. Durbin, A dot-matrix program with dynamic threshold control suited for genomic DNA and protein sequence analysis, Gene, vol.167, pp.1-10, 1995.

E. Bourneuf, P. Otz, H. Pausch, V. Jagannathan, P. Michot et al., Rapid discovery of De novo deleterious mutations in cattle enhances the value of livestock as model species, Sci Rep, vol.7, p.11466, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01608270

H. Segawa, A. Onitsuka, M. Kuwahata, E. Hanabusa, J. Furutani et al., Type IIc sodium-dependent phosphate transporter regulates calcium metabolism, J Am Soc Nephrol, vol.20, pp.104-117, 2009.

K. Myakala, S. Motta, H. Murer, C. Wagner, R. Koesters et al., Renalspecific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice, Am J Physiol-renal, vol.306, pp.833-876, 2014.

I. Zohn, Y. Li, E. Skolnik, K. Anderson, J. Han et al., p38 and a p38-interacting protein are critical for downregulation of E-cadherin during mouse gastrulation, Cell, vol.125, pp.957-69, 2006.

K. Harada, A. B. Truong, T. Cai, and P. A. Khavari, The class II phosphoinositide 3-kinase C2? is not essential for epidermal differentiation, Mol Cell Biol, vol.25, issue.24, p.11122, 2005.

T. Barakat, I. Jonkers, K. Monkhorst, and J. Gribnau, X-changing information on X inactivation, Exp Cell Res, vol.316, pp.679-87, 2010.

C. Senner and N. Brockdorff, Xist gene regulation at the onset of X inactivation, Curr Opin Genet Dev, vol.19, pp.122-128, 2009.

N. Renault, S. Dyack, M. Dobson, T. Costa, W. Lam et al., Heritable skewed X-chromosome inactivation leads to haemophilia a expression in heterozygous females, Eur J Hum Genet, vol.15, p.5201799, 2007.

J. W. Belmont, Genetic control of X inactivation and processes leading to Xinactivation skewing, Am J Hum Genet, vol.58, pp.1101-1109, 1996.

P. Clerc and P. Avner, Role of the region 3? to Xist exon 6 in the counting process of X-chromosome inactivation, Nat Genet, vol.19, pp.798-249, 1998.

R. M. Plenge, B. D. Hendrich, C. Schwartz, J. F. Arena, A. Naumova et al., A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation, Nat Genet, vol.17, pp.353-359, 1997.

Y. Marahrens, B. Panning, J. Dausman, W. Strauss, and R. Jaenisch, Xist-deficient mice are defective in dosage compensation but not spermatogenesis, Genes Dev, vol.11, issue.2, p.156, 1997.

H. J. Lee, R. Gopalappa, H. Sunwoo, S. Choi, S. Ramakrishna et al., En bloc and segmental deletions of human XIST reveal X chromosome inactivation-involving RNA elements, Nucleic Acids Res, vol.47, issue.8, p.3875, 2019.

Z. Yen, I. Meyer, S. Karalic, and C. Brown, A cross-species comparison of Xchromosome inactivation in Eutheria, Genomics, vol.90, pp.453-63, 2007.

C. Chureau, M. Prissette, A. Bourdet, V. Barbe, L. Cattolico et al., Comparative sequence analysis of the X-inactivation center region in mouse, human, and bovine, Genome Res, vol.12, pp.894-908, 2002.
URL : https://hal.archives-ouvertes.fr/hal-00427257

J. Kere, K. H. Grzeschik, J. Limon, and G. Genomics, Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes, Genomics, vol.16, issue.2, 1993.

K. D. Macdermot and H. , Female with hypohidrotic ectodermal dysplasia and de novo (X; 9) translocation, Hum Genet, vol.84, issue.6, 1990.

R. E. Gale, H. Wheadon, P. Boulos, and L. Blood, Tissue specificity of Xchromosome inactivation patterns, Blood, vol.83, issue.10, 1994.

A. K. Naumova, R. M. Plenge, L. M. Bird, M. Leppert, K. Morga et al., Heritability of X chromosome--inactivation phenotype in a large family, Am J Hum Genet, vol.58, issue.6, 1996.

R. C. Allen, H. Y. Zoghbi, A. B. Moseley, H. M. Rosenblatt, and J. W. Belmont, Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation, Am J Hum Genet, vol.51, issue.6, p.1229, 1992.

L. Pereira and M. Zatz, Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation, Am J Med Genet, vol.87, pp.86-93, 1999.

K. Pääkkönen, S. Cambiaghi, G. Novelli, L. Ouzts, M. Penttinen et al., The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia, Hum Mutat, vol.17, p.349, 2001.

M. Puig, D. Castellano, L. Pantano, C. Giner-delgado, D. Izquierdo et al., Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and Creates a fusion transcript, PLoS Genet, vol.11, p.1005495, 2015.

D. Boichard, PEDIG: a fortran package for pedigree analysis suited for large populations. 7th world congress on genetics applied to livestock production, pp.28-41, 2002.

H. Li and R. Durbin, Fast and accurate short read alignment with burrowswheeler transform, Bioinformatics, vol.25, pp.1754-60, 2009.

H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan et al., The sequence alignment/map format and SAMtools, Bioinformatics, vol.25, pp.2078-2087, 2009.

W. Mclaren, B. Pritchard, D. Rios, Y. Chen, P. Flicek et al., Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor, Bioinformatics, vol.26, pp.2069-70, 2010.

P. Kumar, S. Henikoff, and P. Ng, Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm, Nat Protoc, vol.4, p.86, 2009.

A. Untergasser, I. Cutcutache, T. Koressaar, J. Ye, B. Faircloth et al., Primer3-new capabilities and interfaces, Nucleic Acids Res, vol.40, p.115, 2012.

W. Kent, BLAT-the BLAST-like alignment tool, Genome Res, vol.12, pp.656-64, 2002.

, Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations