A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 555-564

  Muenke, M ^a,m   Gripp, K W ^a   McDonald McGinn, D M ^a   Gaudenz, K ^a   Whitaker, L A ^a   Bartlett, S P ^a   Markowitz, R I ^a   Robin, N H ^b   Nwokoro, N ^c   Mulvihill, J J ^c   Losken, H W ^c   Mulliken, J B ^d   Guttmacher, A E ^e   Wilroy, R S ^f   Clarke, L A ^g   Hollway, G ^h   Ades L C ^h   Haan, E A ^h   Mulley, J C ^h   Cohen Jr , M M ⁱ   Bellus, G A ^j   Francomano, C A ^j   Moloney, D M ^k   Wall, S A ^l   Wilkie, A O M ^k,l   Zackai, E H ^a   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF VERMONT   (United States)

^f UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ DALHOUSIE UNIVERSITY   (Canada)

^j JOHNS HOPKINS UNIVERSITY   (United States)

^k JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^l RADCLIFFE INFIRMARY   (United Kingdom)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRACHYDACTYLY; CHROMOSOME 4P; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; RADIODIAGNOSIS; RECEPTOR GENE;

EID: 16944367030     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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