Long-term survival in typical thanatophoric dysplasia type 1

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 427-436

  Baker, Kristin M ^a   Olson, David S ^c   Harding, Cary O ^b   Pauli, Richard M ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c MUNSON MEDICAL CENTER   (United States)

Author keywords

Acanthosis nigricans; Craniosynostosis; Fibroblast growth factor receptor 3 (FGFR3); Lethality; One dysplasias; Thanatophoric dysplasia; Unexpected survival

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACANTHOSIS NIGRICANS; ARTICLE; BODY GROWTH; BONE DYSPLASIA; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; GENE MUTATION; HUMAN; LETHALITY; MALE; PRIORITY JOURNAL; SURVIVAL TIME; THANATOPHORIC DWARFISM;

ACANTHOSIS NIGRICANS; ADULT; CHILD; FEMALE; HUMANS; MALE; POINT MUTATION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SURVIVORS; THANATOPHORIC DYSPLASIA;

EID: 0031004013     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J     Document Type: Article

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