Autosomal dominant inheritance in a recently described ZMIZ1‐ related neurodevelopmental disorder: Case report of siblings and an affected parent-Reference-Cited by-同舟云学术

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Autosomal dominant inheritance in a recently described ZMIZ1‐ related neurodevelopmental disorder: Case report of siblings and an affected parent

Published:2019-12-12 Issue:3 Volume:182 Page:548-552
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Latchman Kumarie¹^ORCID,Calder Madison²,Morel Dayna¹,Rhodes Lindsay³,Juusola Jane³,Tekin Mustafa¹

Affiliation:

1. Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of MedicineUniversity of Miami Coral Gables Florida

2. Miller School of MedicineUniversity of Miami Coral Gables Florida

3. GeneDx, Inc. Laboratory Gaithersburg Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61446

Reference13 articles.

1. Involvement of the Notch Pathway in Terminal Astrocytic Differentiation: Role of PKA

2. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

3. A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations

4. Large-scale discovery of novel genetic causes of developmental disorders

5. Autonomous and non-autonomous regulation of mammalian neurite development by Notch1 and Delta1

Cited by 10 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. Penetrance, variable expressivity and monogenic neurodevelopmental disorders;European Journal of Medical Genetics;2024-06

2. Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function;PLOS ONE;2024-05-08

3. Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability;Frontiers in Psychiatry;2024-04-15

4. Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family;Genes & Genomics;2023-12-20

5. Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function;2023-07-22

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