Mesomelic dysplasia, kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

American Journal of Medical Genetics

Volumn 128 A, Issue 4, 2004, Pages 404-409

  Kwee, M L ^a   Van De Sluijys, J A ^a   Van Vugt, J M G ^a   Wijnaendts, L C D ^a   Gille, J J P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Hypoplastic fibula; Prenatal diagnosis; Radial dysplasia; SHOX; Skeletal dysplasia; Ulnar dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; ECHOGRAPHY; FEMALE; GENE; GENE DELETION; GENE MUTATION; HUMAN; MALE; MESOMELIC DYSPLASIA; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHOX GENE; SKELETON MALFORMATION;

EID: 3342991537     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30120     Document Type: Article

References (8)

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