Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

American Journal of Medical Genetics

Volumn 104, Issue 4, 2001, Pages 277-281

  Camera, Gianni ^a   Baldi, Maurizia ^b   Strisciuglio, Giuseppe ^c   Concolino, Daniela ^d   Mastroiacovo, Pierpaolo ^a   Baffico, Maria ^a,b  

^a San Paolo Hospital   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c Faculty of Medicine   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

Achondroplasia; FGFR3 mutations; Hypochondroplasia; Thanatophoric dysplasia type I

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; HYPOCHONDROPLASIA; INFANT; MALE; NEWBORN; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; THANATOPHORIC DWARFISM;

ACHONDROPLASIA; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA;

EID: 0035892809     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10092     Document Type: Article

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