9247v1 // 5741

Sticht H, Hashemolhosseini S

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.

Med Hypotheses 67:482-7 (2006)
DOI:10.1016/j.mehy.2006.01.062

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV

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

Hum Mol Genet 19:2028-38 (2010)
DOI:10.1093/hmg/ddq084