Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV, MPS VI, MPS VII, and MPS IX are sub-types of muco...

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Bibliographic Details
Main Authors: Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Annete P. Gjesing, Mulazim Hussain, Muhammad Tufail, Muhammad Saqib, Kiran Afshan, Torben Hansen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Genetics
Subjects:
Sanfilippo syndrome
Morquio syndrome
Pakistani families
whole genome sequencing
VWA3B
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1254909/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1254909/full

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