A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with pfeiffer syndrome and multiple pterygia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 17, 2008, Pages 2301-2303

  Baynam, Gareth ^a,c   Smith, Nicholas ^b   Goldblatt, Jack ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^c KING EDWARD MEMORIAL HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTRACTURE; CRANIOFACIAL SYNOSTOSIS; EDEMA; FEMALE; FETUS; FETUS DEATH; FETUS ECHOGRAPHY; FETUS MALFORMATION; GENE MUTATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; LETHAL MULTIPLE PTERYGIUM SYNDROME; LETTER; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PTERYGIUM; SKELETON MALFORMATION;

ACROCEPHALOSYNDACTYLIA; FEMALE; FETAL DEATH; FETAL DISEASES; HUMANS; POINT MUTATION; PREGNANCY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 51449105398     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32443     Document Type: Letter

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