title: A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo Japan.
authors.forename: Toshikatsu
authors.initials: T
authors.lastname: Mitsui
authors.forename: Keisuke
authors.initials: K
authors.lastname: Nagasaki
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Narumi
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ishii
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000293:Adolescent; D002864:Chromogranins; D055028:Comparative Genomic Hybridization; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000175:diagnosis / Q000235:genetics*; D014429:Twins, Dizygotic
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs