ArticleMolecular syndromology2017
A Novel Heterozygous Intragenic Sequence Variant in
Article in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- Article
- Orthologs at the Base of the Olfactores Clade.Genes · 2024Review
- Article
- Sequence Variants in theMolecular syndromology · 2023Article
- Review
- PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.Disease models & mechanisms · 2023Article
- Review
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.Frontiers in molecular biosciences · 2023Article
- Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report.Frontiers in genetics · 2023Article
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.Molecular syndromology · 2020Article
- A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.Anais brasileiros de dermatologiaArticle
- Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Split-hand and foot malformation (SHFM; MIM 183600) is a rare human genetic limb malformation. It is characterized by missing digital rays in the hands and feet. SHFMs vary in severity from mild abnormalities affecting a single limb to acute malformations involving all 4 limbs. It is inherited, as part of both a syndromic and nonsyndromic disorder, in an autosomal recessive, autosomal dominant, and X-linked patterns. So far, 9 loci of hand and foot malformation have been mapped on human chromosomes. The present study describes a family with 2 affected individuals segregating SHFM in an autosomal dominant fashion. Sanger sequencing of the genes involved in SHFM was performed to identify the disease-causing variant. Sequence analysis revealed the first heterozygous missense variant (c.632T>A, p.Val211Glu) in the distal-less homeobox 6 (
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Registered trials
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.