Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. [electronic resource]
- The Journal of clinical endocrinology and metabolism Apr 2014
- E724-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2013-3704 doi
DNA Methylation--genetics Gene Deletion Genes, Dominant Genomic Imprinting--genetics Humans Male Pedigree Pseudohypoparathyroidism--genetics Syntaxin 16--genetics Young Adult