Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome

American Journal of Medical Genetics

Volumn 93, Issue 3, 2000, Pages 219-222

  Rauen, Katherine A ^a   Cotter, Philip D ^a,b   Bitts, Sheila M ^b   Cox, Victoria A ^a   Golabi, Mahin ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

Cardio facio cutaneous syndrome; Chromosome 12; Deletion; Noonan syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; MULTIPLE MALFORMATION SYNDROME; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

ABNORMALITIES, MULTIPLE; ALLELES; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MODELS, GENETIC; NOONAN SYNDROME; PHENOTYPE; SKIN ABNORMALITIES;

EID: 0034640676     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000731)93:3<219::AID-AJMG12>3.0.CO;2-5     Document Type: Article

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