HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
This study broadens the phenotype of MTPD and suggests that the genetic testing of patients suffering from IACMT should include the HADHB gene.
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PMID: 29956646 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - Category: Pathology Authors: Lu Y, Wu R, Meng L, Lv H, Liu J, Zuo Y, Zhang W, Yuan Y, Wang Z Tags: Clin Neuropathol Source Type: research
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