Work

A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

Year: 2000

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/s0002-9297(07)62958-9

Authors: Fujio Umehara, Genshu Tate, Kayoko Itoh, Naoki Yamaguchi, Tsutomu Douchi, Toshiyuki Mitsuya, Mitsuhiro Osame

Institutions: Kagoshima University, SHOWA Medical University Fujigaoka Hospital

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: U.S. Department of Health and Human Services, University College London

OpenAlex ID: W1998017152

FWCI: 1.979

Cites: 11

Cited by: 253

Related to: 10