A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype-Reference-Cited by-同舟云学术

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A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype

Published:2020-04 Issue:2 Volume:29 Page:114-117
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Andoni Tala,Ellard Sian,Kapadia Jogesh,Wakeling Emma

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation.;Bottomley;Nat Struct Biol,2001

2. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.;Chen;Hum Mutat,2017

3. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.;Faqeih;Am J Med Genet A,2014

4. Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.;Gund;Am J Med Genet A,2016

5. Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner deaf-1.;Hahm;Mol Cell Biol,2004

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. De novo variants of DEAF1 cause intellectual disability in six Chinese patients;Clinica Chimica Acta;2021-07

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