Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 24, Pages 3314-3323Publisher
WILEY
DOI: 10.1002/ajmg.a.32032
Keywords
transitional phenotypes; overlapping phenotypes; syndrome delineation; phenotypic spectrum; autosomal dominant; autosomal recessive; X-linked dominant; oral clefting; alveolar ridge abnormalties; tongue anomalies; syndactyly; brachyclactyly; clinodactyly; polydactyly; CNS malformations; renal anomalies; diagnostic approach; molecular genetics; OFD1 gene; animal model; ciliopathies
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Funding
- Telethon [TGM06S01, TGM06Z05] Funding Source: Medline
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The oral-facial-digital syndromes (OFDS) result front the pleiotropic effect of a morphogenetic impairment affecting almost invariably the rnouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed. (c) 2007 Wiley-Liss, Inc.
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