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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Detalles Bibliográficos
Autores principales: Maver, A, Čuturilo, G, Ruml, Stojanović J, Peterlin, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956640/
https://www.ncbi.nlm.nih.gov/pubmed/31942419
http://dx.doi.org/10.2478/bjmg-2019-0028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956640/
https://www.ncbi.nlm.nih.gov/pubmed/31942419
http://dx.doi.org/10.2478/bjmg-2019-0028

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