Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Abstract Background The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequ...

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Bibliographic Details
Main Authors: Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki, Joseph G. Gleeson
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genomics
Online Access:http://link.springer.com/article/10.1186/s12920-020-0714-1

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http://link.springer.com/article/10.1186/s12920-020-0714-1

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