De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
about
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Lessons learned from additional research analyses of unsolved clinical exome cases.Building dialogues between clinical and biomedical research through cross-species collaborations.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.Zfp423/ZNF423 regulates cell cycle progression, the mode of cell division and the DNA-damage response in Purkinje neuron progenitors.Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
P2860
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P2860
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
description
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2017
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im Januar 2017 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2017/01/05)
@nl
наукова стаття, опублікована в січні 2017
@uk
مقالة علمية (نشرت في 5-1-2017)
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name
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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type
label
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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prefLabel
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
@ast
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
@en
P2093
P2860
P50
P1476
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
@en
P2093
Alex Henderson
Alex Magee
Andrea H. Németh
CAUSES study
Deciphering Developmental Disorders study
Julia Rankin
Julie Vogt
Mair E. A. Churchill
Mary D. King
P2860
P304
P356
10.1016/J.AJHG.2016.11.020
P407
P50
P577
2017-01-05T00:00:00Z