Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 274-281

  Wilcox, William R ^a,b,d   Tavormina, Patricia L ^c   Krakow, Deborah ^a,b   Kitoh, Hiroshi ^a   Lachman, Ralph S ^a,b   Wasmuth, John J ^c   Thompson, Leslie M ^c   Rimoin, David L ^a,b  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Craniosynostosis; Dwarfism; Fibroblast growth factor receptor 3; Thanatophoric dysplasia

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CRANIOFACIAL SYNOSTOSIS; ENVIRONMENTAL FACTOR; GENE MUTATION; HEREDITY; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PRIORITY JOURNAL; RADIODIAGNOSIS; STATISTICAL ANALYSIS; THANATOPHORIC DWARFISM;

CHONDROCYTES; CRANIOSYNOSTOSES; CYSTEINE; FEMUR; FETUS; GENOTYPE; GESTATIONAL AGE; GROWTH PLATE; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; REGISTRIES; SKULL; SPINE; THANATOPHORIC DYSPLASIA;

EID: 0031779088     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<274::AID-AJMG14>3.0.CO;2-C     Document Type: Article

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