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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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2018
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Article
Online Zugang: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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