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

Potocki–Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. PSS occasionally shows autism spectrum disorder, epilepsy, and overgrowth....

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Hamanaka, Kohei, Sugawara, Yuji, Shimoji, Takeyoshi, Nordtveit, Tone Irene, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460561/
https://ncbi.nlm.nih.gov/pubmed/30487643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0289-x
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