Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.
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
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