A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

Am J Med Genet A. 2012 Jan;158A(1):261-4. doi: 10.1002/ajmg.a.34393. Epub 2011 Dec 2.

Authors

Toshikatsu Mitsui¹, Keisuke Nagasaki, Masaki Takagi, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa

Affiliation

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo Japan.

PMID: 22140064
DOI: 10.1002/ajmg.a.34393

No abstract available

MeSH terms

Adolescent
Chromogranins
Comparative Genomic Hybridization
Female
GTP-Binding Protein alpha Subunits, Gs / genetics*
Gene Deletion*
Genetic Loci
Humans
Male
Pedigree
Phenotype
Pseudohypoparathyroidism / diagnosis
Pseudohypoparathyroidism / genetics*
Twins, Dizygotic

Substances

Chromogranins
GNAS protein, human
GTP-Binding Protein alpha Subunits, Gs