ロード中...
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. Clinically it is characterized by early-onset epilepsy, hypotonia, dysmorphic features, and variable congenital anomalies. PIGA codes for the phosphatidylinosito...
保存先:
| 出版年: | Mol Syndromol |
|---|---|
| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2020
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7109435/ https://ncbi.nlm.nih.gov/pubmed/32256299 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505797 |
| 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!
|