Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2784-2790

  Ngai, Ying Fai ^a,b   Chijiwa, Chieko ^b   Mercimek Mahmutoglu, Saadet ^b   Stewart, Laura ^c   Yong, Siu Li ^b   Robinson, Wendy P ^b   Gibson, William T ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Albright hereditary osteodystrophy; GNAS; Pseudohypoparathyroidism; Somatic mosaicism

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE;

ADULT; ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; FACE ASYMMETRY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOGONADISM; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; LEUKOCYTE; MALE; MOLECULAR CLONING; MOSAICISM; OBESITY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1A;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MOSAICISM; MUTATION; PREGNANCY; PSEUDOHYPOPARATHYROIDISM;

EID: 78049268263     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33172     Document Type: Article

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