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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Vydáno v:Int J Mol Sci
Hlavní autoři: Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
Case Report
On-line přístup: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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