ReviewJournal of human genetics2016
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Review in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.Reviews in endocrine & metabolic disorders · 2024Pooled it
- POC1A induces epithelial-mesenchymal transition to promote growth and metastasis through the STAT3 signaling pathway in triple-negative breast cancer.Molecular medicine (Cambridge, Mass.) · 2025Article
- Evaluating regional heritability mapping methods for identifying QTLs in a wild population of Soay sheep.Heredity · 2025Article
- An interaction network of inner centriole proteins organised by POC1A-POC1B heterodimer crosslinks ensures centriolar integrity.Nature communications · 2024Article
- Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.European journal of endocrinology · 2022Observational
- Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.BMC medical genomics · 2021Article
- Further phenotypic features and two novelMolecular medicine reports · 2021Article
- A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.Journal of human genetics · 2020Article
- SOFT Syndrome: The First Case in Iran.Advanced biomedical research · 2018Article
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.Current osteoporosis reports · 2017Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirmed SOFT syndrome have been reported to date, all of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report an 8.5-year-old boy with SOFT syndrome showing primordial dwarfism, no effect of growth-hormone therapy and skeletal dysplasia. This is the first report of compound heterozygous variants in POC1A, one previously reported and the other novel. A characteristic skeletal manifestation is reported.
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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.