Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)
Abstract 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 le...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.829 |