Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic...
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Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2025-01-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1488095/full |
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