Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome-Reference-Cited by-同舟云学术

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Published:2018-05-10 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Sato Taisuke^ORCID,Samura Osamu,Kato Noriko,Taniguchi Kosuke,Takahashi Ken,Ito Yuki,Aoki Hiroaki,Kobayashi Masahisa,Migita Ohsuke,Okamoto Aikou,Hata Kenichiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-018-0004-z.pdf

Reference12 articles.

1. Lin, A. E. et al. Further delineation of the branchio-oculo-facial syndrome. Am. J. Med. Genet. 56, 42–59 (1995).

2. Milunsky, J. M. et al. TFAP2A mutations result in branchio-oculo-facial syndrome. Am. J. Hum. Genet. 82, 1171–1177 (2008).

3. Bakrania, P. et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am. J. Hum. Genet. 82, 304–319 (2008).

4. Gestri, G. et al. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum. Genet. 126, 791–803 (2009).

5. Budirahardja, Y., Tan, P. Y., Doan, T., Weisdepp, P. & Zaidel-Bar, R. The AP-2 transcription factor APTF-2 is required for neuroblast and epidermal morphogenesis in Caenorhabditis elegans embryogenesis. PLoS Genet. 12, e1006048 (2016).

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