A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family

Lumaka Zola, Aimé; Mubungu, Gerrye; Mutantu, Pierre; Mukaba, Papino; Luyeye, Gertrude; Tady, Bruno; Corveleyn, Annieke; Lukusa-Tshilobo, Prosper; Devriendt, Koenraad

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A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family

Lumaka Zola, Aimé; Mubungu, Gerrye; Mutantu, Pierre et al.

2013 • In Genetic Counseling, 25 (1)

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/243887

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Disciplines :

Pediatrics

Author, co-author :

Lumaka Zola, Aimé ; Université de Liège - ULiège > Cancer-Human Genetics

Mubungu, Gerrye

Mutantu, Pierre

Mukaba, Papino

Luyeye, Gertrude

Tady, Bruno

Corveleyn, Annieke

Lukusa-Tshilobo, Prosper

Devriendt, Koenraad

Language :

English

Title :

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family

Publication date :

2013

Event name :

24th European Meeting on Dysmorphology

Event organizer :

Euroipezan Society for Human genetics, Working group on dysmorphism

Event place :

Le Bischenberg, Strasbourg, France

Event date :

5-6 September 2013

Audience :

International

Journal title :

Genetic Counseling

ISSN :

1015-8146

Publisher :

Éditions Médecine et Hygiène, Switzerland

Volume :

Issue :

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 22 January 2020

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