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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...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2019
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| Gaiak: | |
| Sarrera elektronikoa: | 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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