Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

BACKGROUND: Infantile hypotonia with psychomotor retardation and characteristic facies type 3(IHPRF3) (OMIM #616,900) is an autosomal recessive disorder caused by biallelic pathogenic variants of the TBCK gene, and to date, this disease was reported rather limitedly in number and all described cases...

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Detalles Bibliográficos
Autores principales: Tan, Hao-Yi, Wang, Bin, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587582/
https://www.ncbi.nlm.nih.gov/pubmed/36273129
http://dx.doi.org/10.1186/s12887-022-03672-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587582/
https://www.ncbi.nlm.nih.gov/pubmed/36273129
http://dx.doi.org/10.1186/s12887-022-03672-w

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