Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
نویسندگان
چکیده
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).
منابع مشابه
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متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis– a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis – a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis– a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
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ورودعنوان ژورنال:
دوره 2017 شماره
صفحات -
تاریخ انتشار 2017