Work

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

Year: 2012

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.35371

Authors: Filiz Hazan, Pia Ostergaard, Taylan Ozturk, Esin Kantekin, Fusun Atlihan, Steve Jeffery, Ferda Ozkinay

Institutions: Dr. Behçet Uz Çocuk Hastalıkları Hastanesi, St George's, University of London, Ege University

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

Funder: British Heart Foundation

Award: Genetic analysis of phenotypically well defined patients with primary lymphoedema using next generation sequencing

OpenAlex ID: W2000322771

FWCI: 1.027

Cites: 12

Cited by: 25

Related to: 10