Work

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

Year: 2013

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.36277

Authors: Ayca D. Aslanger, Umut Altunoglu, Emre Aslanger, Bilge N. Satkın, Zehra Oya Uyguner, Hülya Kayserili

Institutions: Health Sciences University Derince Training and Research Hospital, Istanbul 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: Türkiye Bilimsel ve Teknolojik Araştırma Kurumu

OpenAlex ID: W2003075938

FWCI: 0.493

Cites: 11

Cited by: 16

Related to: 10