Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Abstract Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitial deletions including CNTNAP2 (aliases Ca...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay
Format: article
Langue:EN
Publié: Wiley 2021
Sujets:
Accès en ligne:https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!