A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

INTRODUCTION: NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous...

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Detalles Bibliográficos
Autores principales: Sheth, Frenny, Shah, Jhanvi, Patel, Ketan, Patel, Darshan, Jain, Deepika, Sheth, Jayesh, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841689/
https://www.ncbi.nlm.nih.gov/pubmed/36647078
http://dx.doi.org/10.1186/s12883-023-03065-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841689/
https://www.ncbi.nlm.nih.gov/pubmed/36647078
http://dx.doi.org/10.1186/s12883-023-03065-1

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