Work

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Year: 2009

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2009.164

Authors: Luis M Franco, Thomy de Ravel, Brett H Graham, Stephanie M Frenkel, Jozef Van Driessche, Pawel Stankiewicz, James R Lupski, Joris R Vermeesch, Sau Wai Cheung

Institutions: Baylor College of Medicine, Universitair Ziekenhuis Leuven, Texas Children's Hospital, Instytut Matki i Dziecka

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: KU Leuven, Onderzoeksraad, KU Leuven

OpenAlex ID: W1989851471

FWCI: 1.939

Cites: 29

Cited by: 44

Related to: 10