Work

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

Year: 2017

Type: article

Study design: Case Report

Source: Journal of Genetics

DOI: 10.1007/s12041-017-0868-6

Authors: Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B. Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M. Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad

Institutions: Quaid-i-Azam University, Institut für Humangenetik, Technical University of Munich, Hayatabad Medical Complex, Helmholtz Munich, Kohat University of Science and Technology

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: W2775902012

FWCI: 0.773

Cites: 36

Cited by: 22

Related to: 10