Work

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

Year: 2018

Type: article

Study design: Case Report

Source: Brain and Development

DOI: 10.1016/j.braindev.2018.01.010

Authors: Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi, Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai, Katsumasa Kitamura, Tomoki Kawai, Osamu Ohara, Shinji Kunishima, Shinji Saitoh

Institutions: Nagoya City University, National Hospital Organization, Nagoya Medical Center, Kyoto University, Kazusa DNA Research Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2790604397

FWCI: 1.835

Cites: 8

Cited by: 21

Related to: 10