The p. <scp>Thr395Met</scp> missense variant of <scp> <i>NFIA</i> </scp> found in a patient with intellectual disability is a defective variant-Reference-Cited by-同舟云学术

The p. Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant

Published:2022-01-12 Issue:4 Volume:188 Page:1184-1192
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ogura Yurie¹,Uehara Tomoko²³^ORCID,Ujibe Kota¹,Yoshihashi Hiroshi⁴,Yamada Mamiko²^ORCID,Suzuki Hisato²^ORCID,Takenouchi Toshiki⁵^ORCID,Kosaki Kenjiro²^ORCID,Hirata Hiromi¹^ORCID

Affiliation:

1. Department of Chemistry and Biological Science College of Science and Engineering, Aoyama Gakuin University Sagamihara Japan

2. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

3. Department of Clinical Genetics Aichi Developmental Disability Center Central Hospital Aichi Japan

4. Department of Clinical Genetics Tokyo Metropolitan Children's Medical Center Tokyo Japan

5. Department of Pediatrics Keio University School of Medicine Tokyo Japan

Funder

Naito Foundation

Takeda Science Foundation

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62638

Reference40 articles.

1. Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

2. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

3. Interstitial microdeletion of chromosome 1p in two siblings

4. Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction

5. Axonogenesis in the brain of zebrafish embryos

Cited by 6 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. Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature;Clinical Case Reports;2024-01

2. Effects of Tcte1 knockout on energy chain transportation and spermatogenesis: implications for male infertility;Human Reproduction Open;2024-01-01

3. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature;Genes;2022-11-30

4. Tcte1knockout influence on energy chain transportation, apoptosis and spermatogenesis – implications for male infertility;2022-11-25

5. Asynchronous excitatory neuron development in an isogenic cortical spheroid model of Down syndrome;Frontiers in Neuroscience;2022-09-07