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Journal article

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Abstract:

BACKGROUND: Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery. METHODS: 202 patients presenting with CLM were recruited. The authors obtained G-banded karyotypes and screened EN1, GLI3, HAND2, HOXD13, ROR2, SALL1, SALL4, ZRS of SHH, SPRY4, TBX5, TWIST1 and...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.2009.066027

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Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
Role:
Author
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Journal:
Journal of medical genetics
Volume:
46
Issue:
11
Pages:
730-735
Publication date:
2009-11-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:bf6326d4-08f6-43d1-95ba-4d5b9ed0e116
Source identifiers:
119708
Local pid:
pubs:119708

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