Literature DB >> 17963220

Oral-facial-digital syndromes: review and diagnostic guidelines.

Fiorella Gurrieri1, Brunella Franco, Helga Toriello, Giovanni Neri.   

Abstract

The oral-facial-digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, 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.

Mesh：

Year:  2007        PMID： 17963220     DOI： 10.1002/ajmg.a.32032

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  41 in total

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2.  Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Authors:  Laura L Hayes; Stephen F Simoneaux; Susan Palasis; Dmitriy M Niyazov
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Review 3.  Liver and kidney disease in ciliopathies.

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8.  Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

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Journal:  Orphanet J Rare Dis       Date:  2012-01-11       Impact factor: 4.123

9.  Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

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Journal:  Hum Mutat       Date:  2012-10-17       Impact factor: 4.878

10.  Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

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Journal:  Clin Genet       Date:  2016-04-29       Impact factor: 4.438
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