Novel gene variant identified in congenital hypomyelinating neuropathy-3: A case report

Novel gene variant identified in congenital hypomyelinating neuropathy-3: A case report

Contactin-associated protein ( CNTNAP1 ) gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neuro...

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Bibliographic Details
Main Authors:	Helen Wang, Dillon Chen, Miguel Del Campo, Pamela Del Rosario, Pei-Shan Lee
Format:	Article
Language:	English
Published:	SAGE Publishing 2024-11-01
Series:	SAGE Open Medical Case Reports
Online Access:	https://doi.org/10.1177/2050313X241302236
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