Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Journal of Medical Genetics

Volumn 37, Issue 3, 2000, Pages 220-224

  Mortier, G ^a   Nuytinck, L ^a   Craen, M ^a   Renard, J P ^a   Leroy, J G ^a   De Paepe, A ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR; SERINE;

ADULT; AMINO ACID SUBSTITUTION; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPOCHONDROPLASIA; LETTER; MALE; PRIORITY JOURNAL; RADIODIAGNOSIS; RECEPTOR GENE; SCHOOL CHILD;

EID: 0034111555     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.3.220     Document Type: Letter

References (15)