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Structure: Internal structure identifier : 328928

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

Chantal Lagresle-Peyrou , Sonia Luce , Farid Ouchani , Tayebeh Shabi Soheili , Hanem Sadek , et al.
Journal of Allergy and Clinical Immunology, 2016, 138 (6), pp.1681-1689.e8. ⟨10.1016/j.jaci.2016.04.032⟩
Journal articles hal-01439360v1
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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype

Pauline Dontaine , Elisa Kottos , Martine Dassonville , Ovidiu Balasel , Véronique Catros , et al.
European Journal of Medical Genetics, 2021, 64 (1), pp.104097. ⟨10.1016/j.ejmg.2020.104097⟩
Journal articles hal-03038235v1
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Laurence Desmyter , Michella Ghassibé , Nicole Revencu , Odile Boute , M. Lees , et al.
Mol Syndromol, 2010, 1 (2), pp.67-74. ⟨10.1159/000313786⟩
Journal articles inserm-00538240v1