Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases

Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases

Background: Niemann-Pick disease Type C (NPC) is a rare genetic lipid storage disorder characterized by heterogeneous clinical presentations primarily affecting the neurological and visceral systems. This study aims to elucidate the clinical manifestations, radiological findings, and genetic charact...

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Bibliographic Details
Main Authors: Hajira Karim, Lima Oria, Muhsin Elmas
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2024-02-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
niemann-pick disease
npc1 mutation
cerebellar atrophy
case report
familial disease
whole exome sequencing
Online Access:https://www.jbcgenetics.com/?mno=205819
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