Elli, Francesca M

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