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A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants i...
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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7924324/ https://ncbi.nlm.nih.gov/pubmed/33672664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22042106 |
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