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

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...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
7q35q36.1
array‐CGH
CNTNAP2 disruption
interstitial deletion
KMT2C haploinsufficiency
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
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