Expanding the phenotype of a recurrentde novovariant inPACS1causing intellectual disability
Author:
Affiliation:
1. MVZ Endokrinologikum Hannover; Hannover Germany
2. Institute of Clinical Genetics; Klinikum Stuttgart; Stuttgart Germany
3. CeGaT GmbH; Tübingen Germany
4. MVZ genteQ; Hamburg Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference4 articles.
1. Making headway with genetic diagnostics of intellectual disabilities;Willemsen;Clin Genet,2014
2. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am J Hum Genet,2012
3. At the crossroads of homoeostasis and disease: roles of the PACS proteins in membrane traffic and apoptosis;Youker;Biochem J,2009
4. PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization;Wan;Cell,1998
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