A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodeve...

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Detalles Bibliográficos
Autores principales: Tewari, Vishal V., Mehta, Ritu, Sreedhar, C. M., Tewari, Kunal, Mohammad, Akbar, Gupta, Neerja, Gulati, Sheffali, Kabra, Madhulika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883641/
https://www.ncbi.nlm.nih.gov/pubmed/29618326
http://dx.doi.org/10.1186/s12887-018-1108-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883641/
https://www.ncbi.nlm.nih.gov/pubmed/29618326
http://dx.doi.org/10.1186/s12887-018-1108-9

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