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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Detalles Bibliográficos
Autores principales: Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924324/
https://www.ncbi.nlm.nih.gov/pubmed/33672664
http://dx.doi.org/10.3390/ijms22042106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924324/
https://www.ncbi.nlm.nih.gov/pubmed/33672664
http://dx.doi.org/10.3390/ijms22042106

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