The expanding spectrum of NFIB ‐associated phenotypes in a diverse patient population—A report of two new patients-Reference-Cited by-同舟云学术

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The expanding spectrum of NFIB ‐associated phenotypes in a diverse patient population—A report of two new patients

Published:2020-09-09 Issue:12 Volume:182 Page:2959-2963
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Barrus Kathleen¹²,Rego Shannon¹^ORCID,Yip Tiffany¹,Martin Pierre‐Marie¹,Glen Orit A.³,Van Ziffle Jessica¹,Slavotinek Anne M.¹⁴

Affiliation:

1. Institute for Human Genetics, University of California, San Francisco San Francisco California USA

2. Department of Genetics Stanford University School of Medicine Stanford California USA

3. Department of Radiology and Biomedical Imaging University of California, San Francisco San Francisco California USA

4. Division of Medical Genetics, Department of Pediatrics University of California, San Francisco San Francisco California USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61852

Reference11 articles.

1. Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

2. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum

3. A novel truncating variant in ring finger protein 113A ( RNF113A ) confirms the association of this gene with X‐linked trichothiodystrophy

4. Multiple non-cell-autonomous defects underlie neocortical callosal dysgenesis in Nfib-deficient mice

Cited by 3 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. Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB‐related developmental disorder;American Journal of Medical Genetics Part A;2023-02-09

2. Further characterization of NFIB ‐associated phenotypes: Report of two new individuals;American Journal of Medical Genetics Part A;2022-11-02

3. A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects;Frontiers in Pediatrics;2022-03-30

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