ArticleBioMed research international2020
The Novel Compound Heterozygous Mutations of
Article in BioMed research international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- A novel compound heterozygous variant ofFrontiers in neurology · 2024Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- Expanding the Phenotypic Spectrum ofChildren (Basel, Switzerland) · 2021Article
- A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.International journal of molecular sciences · 2021Article
- Case Report: A Novel Gross Deletion inFrontiers in genetics · 2021Article
- A NovelBioMed research international · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDistal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia.
methodsA DA5D family with webbing of the elbows and fingers was recruited. We performed whole-exome sequencing (WES) and filtered mutations by disease-causing genes of arthrogryposis multiplex congenita (AMC). Mutational analysis and cosegregation confirmation were then performed.
resultsWe identified novel compound heterozygous mutations of
conclusionsWe detected causative mutations in a DA5D family, expanding the spectrum of known
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.