Work

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Year: 2021

Type: article

Source: Journal of Human Genetics

DOI: 10.1038/s10038-021-00986-y

Authors: Rie Seyama, Naomi Tsuchida, Yasuyuki Okada, Sonoko Sakata, Keisuke Hamada, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Satoshi Okada, Nobuhiko Okamoto, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto

Institutions: Juntendo University, Yokohama City University, Yokohama City University Hospital, Higashihiroshima Medical Center, Hiroshima University, Aichi Medical University, Juntendo University Urayasu Hospital, Osaka Women's and Children's Hospital

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Japan Agency for Medical Research and Development, Ministry of Education, Culture, Sports, Science and Technology, Japan Society for the Promotion of Science

Awards: Elucidation of the mechanisms of differential gene expression in the male and female mice on the sexual differentiation of the cerebral cortex, Elucidating genetic cause and patho-mechanism of neuromusucular disorders using long-read sequencer, Identification of novel genes for autoinflammatory diseases focusing on extreme phenotypes, G2687298892, G3214035736, G4600450294, G5768520600, G7392391535, NGS技術を駆使した遺伝学的解析による家族性乳がんの原因遺伝子同定と標準化医療構築, Application of long-read sequencing technologies to investigate epilepsy-associated genes, G8021734770, G8431178905

OpenAlex ID: W3208385682

FWCI: 2.654

Cites: 27

Cited by: 25

Related to: 10