Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Backgroundα-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age. Newborns are usually asymptomatic, however, some cases are r...

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Hlavní autoři:	Jamil Amjad Hashmi, Muhammad Latif, Reham M. Balahmar, Muhammad Zeeshan Ali, Fatima Alfadhli, Muzammil Ahmad Khan, Sulman Basit
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-08-01
Edice:	Frontiers in Genetics
Témata:	metabolic disorder MAN2B1 alpha-mannosidosis frameshift variant developmental delay
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1421943/full
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