Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States

American Journal of Medical Genetics

Volumn 86, Issue 3, 1999, Pages 245-252

  Smith, Wendy ^a,c   Ji, Hanlee P ^b   Mouradian, Wendy ^b   Pagon, Roberta A ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Joint laxity; SEMDJL; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CHILD; CLUBFOOT; CONGENITAL HEART DISEASE; FEMALE; HIP DISLOCATION; HUMAN; JOINT LAXITY; MALE; PALATE MALFORMATION; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; UNITED STATES;

CHILD; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; JOINT INSTABILITY; MALE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; UNITED STATES;

EID: 0032855817     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990917)86:3<245::AID-AJMG10>3.0.CO;2-5     Document Type: Article

References (8)

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