The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function-Reference-Cited by-同舟云学术

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

Published:2017-09-08 Issue:2 Volume:93 Page:356-359
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Gordon C.T.¹²^ORCID,Tessier A.¹²^ORCID,Demir Z.³,Goldenberg A.⁴,Oufadem M.¹²,Voisin N.¹²,Pingault V.¹²³,Bienvenu T.⁵^ORCID,Lyonnet S.¹²³,de Pontual L.¹⁶,Amiel J.¹²³

Affiliation:

1. Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163; Institut Imagine; Paris France

2. Paris Descartes-Sorbonne Paris Cité University; Institut Imagine; Paris France

3. Département de Génétique, Hôpital Necker-Enfants Malades; Assistance Publique Hôpitaux de Paris (AP-HP); Paris France

4. Service de Génétique, CHU de Rouen; Centre Normand de Génomique Médicale et Médecine Personnalisée; Rouen France

5. Laboratoire de biochimie et génétique moléculaire; Hôpital Cochin; Paris France

6. Service de pédiatrie; Hôpital Jean Verdier; Bondy France

Funder

Université Sorbonne Paris-Cité Pôle de recherche et d'enseignement supérieur grant

ANR-2014 CranioRespiro

E-Rare CRANIRARE grant

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13046/fullpdf

Reference16 articles.

1. Auriculo-condylar syndrome. Confronting a diagnostic challenge;Kokitsu-Nakata;Am J Med Genet A,2012

2. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears;Gordon;Am J Hum Genet,2013

3. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome;Rieder;Am J Hum Genet,2012

4. The transcription factor MEF2C is required for craniofacial development;Verzi;Dev Cell,2007

5. mef2ca is required in cranial neural crest to effect Endothelin1 signaling in zebrafish;Miller;Dev Biol,2007

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