Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome-Reference-Cited by-同舟云学术

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Published:2013-06 Issue:6 Volume:56 Page:301-308
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Darmency-Stamboul Véronique,Burglen Lydie,Lopez Estelle,Mejean Nathalie,Dean John,Franco Brunella,Rodriguez Diana,Lacombe Didier,Desguerres Isabelle,Cormier-Daire Valérie,Doray Bérénice,Pasquier Laurent,Gonzales Marie,Pastore Matthew,Crenshaw Melissa L.,Huet Frédéric,Gigot Nadège,Aral Bernard,Callier Patrick,Faivre Laurence,Attié-Bitach Tania,Thauvin-Robinet Christel

Funder

General Counsil of Burgundy

French GIS-Maladies rares

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. Oral-facial-digital syndromes: review and diagnostic guidelines;Gurrieri;Am. J. Med. Genet. A,2007

2. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification;Ferrante;Nat. Genet.,2006

3. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies;Varadi;J. Med. Genet.,1980

4. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI;Poretti;AJNR Am. J. Neuroradiol.,2008

5. Joubert syndrome (and related disorders) (OMIM 213300);Parisi;Eur. J. Hum. Genet.,2007

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