Catalog

Hypoparathyroidism by glial cells missing B mutations

No MMS code

Link to WHO Definition

Hypoparathyroidism by glial cells missing B mutations – http://id.who.int/icd/entity/153432885

GCMB is a transcription factor which have essential role in the development of parathyroid hormone. Both autosomal dominant and recessive forms of familial hypoparathyroidism due to mutations in GCMB gene have been reported. (OMIM #146200)