Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the <i>KATNB1</i> gene in the older sister. On the ot...

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Bibliographic Details
Main Authors: Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
<i>KATNB1</i>
lissencephaly 6
microcephaly
<i>FAT1</i>
microphthalmia
preaxial polydactyly
Online Access:https://www.mdpi.com/2073-4425/12/7/962

Internet

https://www.mdpi.com/2073-4425/12/7/962

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