(PDF) A Recurrent De Novo PACS2 Heterozygous Missense

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.09.002

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Date

October 1, 2018

Authors

Paul A. van der Zwaag

Margot R.F. Reijnders

Christelle Moufawad El Achkar

Dietje E. Fransen van de Putte

Claudia A.L. Ruivenkamp

Patrick Rump

Nicolas Chatron

Isabelle Sabatier

Julitta De Bellescize

Jean-Baptiste Rivière

Antonio Vitobello

Frédéric Tran Mau-Them

Janneke Schuurs-Hoeijmakers

Christel Thauvin-Robinet

Publisher

Elsevier BV

Amanote Research

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.09.002

Full Text

Abstract

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Date

Authors

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