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American Journal of Medical Genetics

Volumn 94, Issue 4, 2000, Pages 287-295

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and burton disease

(5) Spranger, J a Hall, B D b Hane B a Srivastava, A a Stevenson, R E a

a GREENWOOD GENETIC CENTER (United States)

b UNIVERSITY OF KENTUCKY (United States)

Author keywords

Bone dysplasia; Kyphomelic dysplasia bowing; Myotonia; Myotonic chondrodysplasia; Schwartz Jampel syndrome

Indexed keywords

ARTICLE; BONE MALFORMATION; CASE REPORT; CHONDRODYSPLASIA; FEMALE; FEMUR; FOLLOW UP; HUMAN; INFANT; LONG BONE; MALE; MICROMELIA; MYOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME; TIBIA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; CASE REPORT; CHILD, PRESCHOOL; FACE; FEMALE; FEMUR; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMAN; INFANT; KYPHOSIS; MALE; MYOTONIC DISORDERS; OSTEOCHONDRITIS; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 0034597369 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20001002)94:4<287::AID-AJMG5>3.0.CO;2-G Document Type: Article

Times cited : (40)

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