Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.,Molecular Genetics & Genomic Medicine

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Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-09 , DOI: 10.1002/mgg3.1380
Ah J Lee ₁ , Da E Nam ₁ , Yu J Choi ₁ , Seung W Noh ₁ , Soo H Nam ₂ , Hye J Lee ₃ , Seung J Kim ₃ , Gyun J Song ₄ , Byung-Ok Choi _{2,

3} , Ki W Chung ₁

Affiliation

Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are developed by duplication and deletion of the 17p12 (PMP22) region, respectively.

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