ロード中...
A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman–Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic def...
保存先:
| 出版年: | J Pediatr Genet |
|---|---|
| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2018
|
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087479/ https://ncbi.nlm.nih.gov/pubmed/30105119 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1636997 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|