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

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 Caspr2, KI...

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Detalles Bibliográficos
Autores principales: Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606216/
https://www.ncbi.nlm.nih.gov/pubmed/34582124
http://dx.doi.org/10.1002/mgg3.1645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606216/
https://www.ncbi.nlm.nih.gov/pubmed/34582124
http://dx.doi.org/10.1002/mgg3.1645

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