CHILD syndrome

Name: Foundation for Ichthyosis and Related Skin Types FIRST 2616 North Broad Street
Colmar, PA, 18915 , United States
Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: Url:
Name: Genetic Testing Registry GTR Url:
Berggvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG, Hamie L, Kurban M, Rubeiz N. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach Am J Med Genet. Mar 2018; 176(3). 733-738. Reference Link Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW.. CHILD Syndrome: Case report of a Chinese patient and Literature review of NAD[P]H steroid dehydrogenase-like protein gene mutation Ped Derm. 2015; 32(6). e277-e282. Reference Link du Souich, C. Raymond, FL, Grzeschik, K-H, and Boerkoel, CF. NSDHL-Related Disorders GeneReviews. Updated Oct 25, 2018; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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