Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

December 2016 in “ Hormone Research in Paediatrics ”

S. Ben Ameur, Caroline Silve, I. Chabchoub, Fatma Damak, Fatma Kamoun, Aurélie Toussaint, S. Kmiha, L. Sfaihi, I. Mâaloul, Thouraya Kamoun, Hajer Aloulou, M. Hachicha

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research A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses

12 citations, September 2014 in “Bone”

A vitamin D receptor mutation causes rickets and affects immune responses.

research Hereditary Vitamin D Rickets: A Case Series in a Family

6 citations, January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Three siblings with a genetic form of rickets showed different symptoms of the disease.

research Genetic Disorders and Defects in Vitamin D Action

151 citations, June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.