An extremely severe phenotype attributed to WDR81 nonsense mutations-Reference-Cited by-同舟云学术

An extremely severe phenotype attributed to WDR81 nonsense mutations

Published:2017-10 Issue:4 Volume:82 Page:650-651
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Cappuccio Gerarda¹²,Pinelli Michele¹²^ORCID,Torella Annalaura²³,Vitiello Giuseppina¹,D'Amico Alessandra⁴,Alagia Marianna¹²,Del Giudice Ennio¹,Nigro Vincenzo²³,Brunetti-Pierri Nicola¹²,

Affiliation:

1. Department of Translational Medicine, Section of Pediatrics; Federico II University; Naples Italy

2. Telethon Institute of Genetics and Medicine; Pozzuoli Naples Italy

3. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology; University of Campania ‘Luigi Vanvitelli’; Naples Italy

4. Department of Advanced Biomedical Sciences; University of Naples Federico II; Naples Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference4 articles.

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2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep,2015

3. Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family;Komara;Am J Med Genet Part A,2016

4. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred;Gulsuner;Genome Res,2011

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