Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the de...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Autops Case Rep
Asıl Yazarlar: Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, Sahu, Jitendra Kumar
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hospital Universitário da Universidade de São Paulo 2020
Konular:
Article / Autopsy Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7703047/
https://ncbi.nlm.nih.gov/pubmed/33344277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2020.157
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