Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators of development, present in vertebrates and some invertebrates. In man, GCMB encodes a 506 amino acid parathyroid gland-specific protein, mutations of which have been reported to cause...

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Bibliographic Details
Main Authors: Bowl, MR, Mirczuk, S, Grigorieva, I, Piret, SE, Cranston, T, Southam, L, Allgrove, J, Bahl, S, Brain, C, Loughlin, J, Mughal, Z, Ryan, F, Shaw, N, Thakker, Y, Tiosano, D, Nesbit, M, Thakker, R
Format: Journal article
Language:English
Published: 2010

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