Work

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Year: 2013

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2013.141

Authors: Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy, Christine Francannet

Institution: Université de Clermont I

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

Funder: Direction Générale de l’offre de Soins

OpenAlex ID: W2076485743

FWCI: 1.151

Cites: 24

Cited by: 57

Related to: 10