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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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2021
Konular:
Case Report
Online Erişim: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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