Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature

American Journal of Medical Genetics

Volumn 93, Issue 1, 2000, Pages 22-28

  Roscioli, T ^a   Flanagan, S ^b   Kumar, P ^c   Masel, J ^d   Gattas, M ^a   Hyland, V J ^b,c   Glass, I A ^a,b,d  

^a Herston Hospitals Campus   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Calcaneo cuboid coalition; Epiphyseal coning; Fibroblast growth factor receptor; Jackson Weiss syndrome; Mutation; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DIAGNOSTIC IMAGING; FEMALE; GENETIC ANALYSIS; HUMAN; JACKSON WEISS SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING;

EID: 0034601248     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U     Document Type: Article

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