Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

American Journal of Medical Genetics

Volumn 78, Issue 4, 1998, Pages 356-360

  Gripp, Karen W ^a   Stolle, Catherine A ^b   McDonald McGinn, Donna M ^a   Markowitz, Richard I ^a   Bartlett, Scott P ^a   Katowitz, James A ^a   Muenke, Maximilian ^a,b   Zackai, Elaine H ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Craniosynostosis; Elbow ankylosis; Fibroblast growth factor receptor 2; Hydrocephalus; Pfeiffer syndrome type III; Proptosis; Ser351Cys

Indexed keywords

CYSTEINE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR; SERINE;

ACROCEPHALOSYNDACTYLY; AIRWAY OBSTRUCTION; ANKYLOSIS; ARTICLE; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EXOPHTHALMOS; GENE MUTATION; HUMAN; HYDROCEPHALUS; INTESTINE MALFORMATION; MALE; OSTEOPENIA; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SLEEP APNEA SYNDROME; TOE MALFORMATION;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; AMINO ACID SUBSTITUTION; CYSTEINE; ELBOW; EYE ABNORMALITIES; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SERINE; TRANSLOCATION, GENETIC; WHEELCHAIRS;

GENETTA;

EID: 0031904629     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980724)78:4<356::AID-AJMG10>3.0.CO;2-H     Document Type: Article

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