First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia

J Eur Acad Dermatol Venereol. 2019 Feb;33(2):e55-e57. doi: 10.1111/jdv.15182. Epub 2018 Oct 14.

C Cluzeau¹, S Marrakchi², C Picard^{3

4}, A Munnich¹, A Smahi¹, H Turki²

¹ Department of Genetics, Institut Imagine, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, INSERM UMR 1163, University Paris Descartes, Paris, France.
² Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia.
³ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Imagine Institut, University Paris Descartes, INSERM UMR 1163, Paris, France.
⁴ Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.

No abstract available

Publication types