A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features-Reference-Cited by-同舟云学术

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features

Published:2018-02-06 Issue:4 Volume:63 Page:487-491
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Sekiguchi Futoshi,Nasiri Jafar,Sedghi Maryam,Salehi Mansoor,Hosseinzadeh Majid,Okamoto Nobuhiko^ORCID,Mizuguchi Takeshi,Nakashima Mitsuko,Miyatake Satoko,Takata Atsushi,Miyake Noriko,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0404-9.pdf

Reference11 articles.

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3. Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, et al. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum Mutat. 2015;36:1015–9.

4. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10:148–61.

5. Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, et al. Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015;97:555–66.

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