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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | 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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