Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy-Reference-Cited by-同舟云学术

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Published:2016-12 Issue:6 Volume:99 Page:1368-1376
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Assoum Mirna,Philippe Christophe,Isidor Bertrand,Perrin Laurence,Makrythanasis Periklis,Sondheimer Neal,Paris Caroline,Douglas Jessica,Lesca Gaetan,Antonarakis Stylianos,Hamamy Hanan,Jouan Thibaud,Duffourd Yannis,Auvin Stéphane,Saunier Aline,Begtrup Amber,Nowak Catherine,Chatron Nicolas,Ville Dorothée,Mireskandari Kamiar,Milani Paolo,Jonveaux Philippe,Lemeur Guylène,Milh Mathieu,Amamoto Masano,Kato Mitsuhiro,Nakashima Mitsuko,Miyake Noriko,Matsumoto Naomichi,Masri Amira,Thauvin-Robinet Christel,Rivière Jean-Baptiste,Faivre Laurence,Thevenon Julien

Funder

Regional Council of Burgundy

Dijon University Hospital

Association Française du Syndrome de Rett

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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