Work

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Year: 2000

Type: article

Study design: Case Report

Source: Nature Genetics

DOI: 10.1038/79178

Authors: Maria Bitner-Glindzicz, Keith J. Lindley, Paul Rutland, Diana Blaydon, Virpi V. Smith, Peter J. Milla, Khalid Hussain, Judith Furth-Lavi, Karen E. Cosgrove, Ruth M. Shepherd, Philippa D. Barnes, Rachel E. O'Brien, Peter A. Farndon, Jane Sowden, Xue-Zhong Liu, Matthew J. Scanlan, Sue Malcolm, Mark J. Dunne, Albert Aynsley-Green, Benjamin Glaser

Institutions: Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Hebrew University of Jerusalem, Hadassah Medical Center, University of Sheffield, Birmingham Women's Hospital, Virginia Commonwealth University Medical Center, Memorial Sloan Kettering Cancer Center, Ludwig Cancer Research

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Institute on Deafness and Other Communication Disorders

Awards: G771279264, SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS

OpenAlex ID: W1498955896

FWCI: 9.894

Cites: 26

Cited by: 323

Related to: 10