Work

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

Year: 2007

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/sj.ejhg.5201833

Authors: Johannes G Dauwerse, Bert B A de Vries, Cokkie H Wouters, Egbert Bakker, Gudrun Rappold, Geert R Mortier, Martijn H Breuning, Dorien J M Peters

Institutions: Leiden University Medical Center, Radboud University Medical Center, Heidelberg University, Ghent University Hospital

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2068964282

FWCI: 2.16

Cites: 14

Cited by: 27

Related to: 10