De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies-Reference-Cited by-同舟云学术

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Published:2018-11-28 Issue:3 Volume:27 Page:378-383
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hamanaka Kohei,Sugawara Yuji,Shimoji Takeyoshi,Nordtveit Tone Irene,Kato Mitsuhiro,Nakashima Mitsuko,Saitsu Hirotomo^ORCID,Suzuki Toshimitsu,Yamakawa Kazuhiro,Aukrust Ingvild,Houge Gunnar,Mitsuhashi Satomi,Takata Atsushi,Iwama Kazuhiro,Alkanaq Ahmed,Fujita Atsushi,Imagawa Eri,Mizuguchi Takeshi,Miyake Noriko,Miyatake Satoko,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0289-x.pdf

Reference20 articles.

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3. Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, et al. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010;152a:565–72.

4. Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. Am J Med Genet A. 2015;167a:3011–8.

5. Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet A. 2013;161a:198–202.

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