Dysspondyloenchondromatosis (DSC) associated withCOL2A1mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)-Reference-Cited by-同舟云学术

Dysspondyloenchondromatosis (DSC) associated withCOL2A1mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)

Published:2015-08-06 Issue:12 Volume:167 Page:3103-3107
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Merrick Blair¹,Calder Alistair²,Wakeling Emma¹

Affiliation:

1. North West Thames Regional Genetics Service; London North West Healthcare NHS Trust; Harrow UK

2. Department of Radiology; Great Ormond Street Hospital; London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37282/fullpdf

Reference14 articles.

1. Dysspondylochondromatosis;Freisinger;Am J Med Genet,1993

2. Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome;Haga;Clin Dysmorphol,1998

3. Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis;Kenis;Ger Med Sci,2013

4. Dysspondyloenchondromatosis in the newborn. Report of four cases;Kozlowski;Pediatr Radiol,1994

5. Case report 416: Spondylometaphyseal chondroplasia with an unclassified mucopolysaccharide in the urine (“generalized enchondromatosis with mucopolysacchariduria”);Lerman-Sagie;Skeletal Radiol,1987

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