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pro vyhledávání: '"Zaineddin Samiha"'
Autor:
Mariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, Akihiro Fujikawa, Kazuya Kuboyama, Yasushi Takeuchi, Zafar Nawaz, Javad Nadaf, Hussein Kamel, Abu Khadija Kitam, Zaineddin Samiha, Laila Mahmoud, Tawfeg Ben-Omran, Jacek Majewski, Masaharu Noda
Publikováno v:
Cell Reports, Vol 10, Iss 9, Pp 1585-1598 (2015)
Sotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detecte
Externí odkaz:
https://doaj.org/article/41065d229bf44afebb773f1997abcfa7
Akademický článek
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Autor:
Jacek Majewski, Kazuya Kuboyama, Zaineddin Samiha, Akihiro Fujikawa, Takafumi Shintani, Abu Khadija Kitam, Yasushi Takeuchi, Somayyeh Fahiminiya, Masaharu Noda, Mariam Almuriekhi, Laila Mahmoud, Hussein Kamel, Javad Nadaf, Zafar Nawaz, Tawfeg Ben-Omran
Publikováno v:
Cell Reports, Vol 10, Iss 9, Pp 1585-1598 (2015)
SummarySotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and