Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet. 2005 May;42(5):443-8.