ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cau...

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Vydáno v:J Hum Genet
Hlavní autoři: Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5537415/
https://ncbi.nlm.nih.gov/pubmed/28250421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.24
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