Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Autor:in

Bastepe, Murat; Fröhlich, Leopold F; Hendy, Geoffrey N; Indridason, Olafur S; Josse, Robert G; Koshiyama, Hiroyuki; Körkkö, Jarmo; Nakamoto, Jon M; Rosenbloom, Arlan L; Slyper, Arnold H; Sugimoto, Toshitsugu; Tsatsoulis, Agathocles; Crawford, John D; Jüppner, Harald;

Schlagwörter

Adolescent; Adult; Child; DNA Methylation*; Exons; GTP-Binding Protein alpha Subunits, Gs/genetics*; Gene Deletion*; Genomic Imprinting*; Humans; Pedigree; Pseudohypoparathyroidism/genetics*;

ISSN/eISSN

0021-9738 -

WoS ID

WOS:000186000300017