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Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)
BACKGROUND: Koolen‐de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X‐linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to p...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687649/ https://ncbi.nlm.nih.gov/pubmed/31250568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.829 |
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