Double heterozygosity in bone growth disorders: Four new observations and review

American Journal of Medical Genetics

Volumn 121 A, Issue 3, 2003, Pages 193-208

  Flynn, Maureen A ^a   Pauli, Richard M ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

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

Author keywords

Achondroplasia; Bone dysplasia; Hypochondroplasia; Natural history; Osteochondrodysplasia; Osteogenesis imperfecta; Pseudoachondroplasia; Spondyloepiphyseal dysplasia

Indexed keywords

ACHONDROPLASIA; BONE DISEASE; BONE GROWTH; CLINICAL EXAMINATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DOCUMENTATION; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; HYPOCHONDROPLASIA; MEDICAL ASSESSMENT; MEDICAL LITERATURE; MOLECULAR MECHANICS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0042695935     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20143     Document Type: Review

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