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Hypomyelination and Congenital Cataract: Three Siblings Presentation

Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three sib...

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Detaylı Bibliyografya
Yayımlandı:J Pediatr Neurosci
Asıl Yazarlar: Karalok, Zeynep Selen, Gurkasb, Esra, Aydinc, Kursad, Ceylaner, Serdar
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer - Medknow 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847105/
https://ncbi.nlm.nih.gov/pubmed/33531944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_161_18
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