FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome [2]

American Journal of Medical Genetics

Volumn 76, Issue 4, 1998, Pages 362-364

  Krepelova, A ^a   Baxova, A ^a   Calda, P ^a   Plavka, R ^a   Kapras, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

AMINO ACID SUBSTITUTION; BRONCHOPNEUMONIA; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; FATALITY; FEMALE; GENE MUTATION; HUMAN; LETTER; MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; SKULL MALFORMATION;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CRANIOSYNOSTOSES; EXONS; FEMALE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDROME;

EID: 0032054062     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980401)76:4<362::AID-AJMG15>3.0.CO;2-M     Document Type: Letter

References (9)