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...
Main Authors: | Maver A, Čuturilo G, Ruml Stojanović J, Peterlin B |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2019-12-01
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Series: | Balkan Journal of Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.2478/bjmg-2019-0028 |
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