Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was i...

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Опубликовано в: :Hum Genome Var
Главные авторы: Ueda, Ayako, Shimbo, Hiroko, Yada, Yukari, Koike, Yasunori, Yamagata, Takanori, Osaka, Hitoshi
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2018
Предметы:
Data Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5874395/
https://ncbi.nlm.nih.gov/pubmed/29619238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.13
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