A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance
Multiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types of the genetically heterogeneous group of skeletal dysplasias characterized by impaired ossification of the epiphyses of long bones. To date, it is known that the disease is caused by heterozygous variants in the...
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| Huvudupphov: | , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
MDPI AG
2022-06-01
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| Serie: | International Journal of Translational Medicine |
| Ämnen: | |
| Länkar: | https://www.mdpi.com/2673-8937/2/2/19 |
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