Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation-Reference-Cited by-同舟云学术

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

Published:2017-02-07 Issue:3 Volume:173 Page:706-711
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Maillard Camille¹²,Cavallin Mara¹²,Piquand Kevin¹²,Philbert Marion¹²,Bault Jean Philippe³⁴,Millischer Anne Elodie⁵,Moshous Despina¹⁶⁷,Rio Marlène⁸,Gitiaux Cyril⁹,Boddaert Nathalie⁵¹⁰,Masson Cecile¹¹,Thomas Sophie¹²,Bahi-Buisson Nadia¹²⁹

Affiliation:

1. Paris Descartes-Sorbonne Paris Cité University; Imagine Institute; Paris France

2. INSERM UMR-1163; Embryology and Genetics of Congenital Malformations; Paris France

3. CHU Bicêtre Departments of Obstetrics; Bicetre University Hospital; APHP; Paris France

4. CPDP; CHI Poissy Saint-Germain; Paris France

5. Department of Pediatric Radiology; Hôpital Necker Enfants Malades; AP-HP; University René Descartes; PRES Sorbonne Paris Cité; Paris France

6. INSERM UMR1163; Genome Dynamics in the Immune System; Paris France

7. Paediatric Immunology; Hematology and Rheumatology Unit; Necker Enfants Malades University Hospital, APHP; Paris France

8. Departments of Genetics; Necker Enfants Malades University Hospital, APHP; Paris France

9. Pediatric Neurology; Necker Enfants Malades University Hospital, APHP; Paris France

10. INSERM U1000 and UMR 1163; Institut Imagine; Paris France

11. Plateforme Bioinformatique; Paris Descartes-Sorbonne Paris Cité University; Imagine Institute; Paris France

Funder

European Union Seventh Framework Programme

DESIRE

Rare Diseases Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

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2. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation;Alby;Birth Defects Res A Clin Mol Teratol,2016

3. Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients;Bedeschi;Pediatr Neurol,2006

4. Vici syndrome: A review;Byrne;Orphanet J Rare Dis,2016

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