Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

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 detected a homozygous frameshift mutation in the APC2 gen...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Cell Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124715001394

Internet

http://www.sciencedirect.com/science/article/pii/S2211124715001394

Similar Items