Work

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

Year: 2018

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.60679

Authors: Moritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, Cornelia Kraus, Steffen Uebe, Arif B. Ekici, Christian T. Thiel, André Reis, Bernt Popp

Institution: Friedrich-Alexander-Universität Erlangen-Nürnberg

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2905037065

FWCI: 0.804

Cites: 21

Cited by: 18

Related to: 10