Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation

Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation

Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, gro...

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Bibliographic Details
Main Authors: Maver A, Čuturilo G, Ruml Stojanović J, Peterlin B
Format: Article
Language:English
Published: Sciendo 2019-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
growth delay
h3f3a gene
intellectual disability
microcephaly
severe developmental delay
Online Access:https://doi.org/10.2478/bjmg-2019-0028

Internet

https://doi.org/10.2478/bjmg-2019-0028

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