FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: Phenotype-genotype correlation

Southern Medical Journal

Volumn 93, Issue 6, 2000, Pages 622-624

  Chen, Harold ^a   Mu, Xinjie ^a   Sonoda, Toru ^a   Kim, Kyoung Chang ^a   Dailey, Kathy ^a   Martinez, Jose ^a   Tuck Muller, Cathy ^a   Wertelecki, Wladimir ^a  

^a LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 3;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 21Q; CLINICAL EXAMINATION; COMORBIDITY; DOWN SYNDROME; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; TRISOMY 21;

EID: 0034581718     PISSN: 00384348     EISSN: None     Source Type: Journal    
DOI: 10.1097/00007611-200093060-00019     Document Type: Article

References (5)

1. Achondroplasia and Down's syndrome
2. Achondroplasia associated with Down syndrome
3. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
4. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
5. Achondroplasia with XXY karyotype