Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review

Abstract Background Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction, gastroesophageal reflux disease (GERD), and sensory...

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Main Authors: Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Neurology
Subjects:
TECPR2
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy type 9
HSAN9
Whole-exome sequencing (WES)
Online Access:https://doi.org/10.1186/s12883-024-03963-y
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