Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?

American journal of medical genetics

Volumn 71, Issue 2, 1997, Pages 243-245

  Passos Bueno, M R ^a   Sertie A L ^a   Zatz, M ^a   Richieri Costa, A ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; BRAZIL; CASE REPORT; CHILD; DNA SEQUENCE; EXON; FEMALE; GENETICS; HUMAN; INFANT; LETTER; MUTATION; PHENOTYPE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ACROCEPHALOSYNDACTYLIA; BRAZIL; CHILD; EXONS; FEMALE; HUMANS; INFANT; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE ANALYSIS, DNA;

MLCS; MLOWN;

EID: 0031559395     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970808)71:2<243::aid-ajmg27>3.3.co;2-4     Document Type: Letter

References (0)