Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental delay, poor or absent speech and absent or limited wal...

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Detalles Bibliográficos
Autores principales: Tao, Yilun, Han, Dong, Wei, Yiju, Wang, Lihong, Song, Wenxia, Li, Xiaoze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476880/
https://www.ncbi.nlm.nih.gov/pubmed/34594366
http://dx.doi.org/10.3389/fgene.2021.747422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476880/
https://www.ncbi.nlm.nih.gov/pubmed/34594366
http://dx.doi.org/10.3389/fgene.2021.747422

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