ArticleTranslational science of rare diseases2018
Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.
Article in Translational science of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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
3 citing papers in PubMed, 8 citations in OpenAlex.
- TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.Biomolecules · 2025Review
- Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in theFrontiers in genetics · 2022Article
- From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome.
objectiveTo describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the
methodsWe conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the
conclusionThe novel homozygous p.Arg114* pathogenic variant in the
Indexed as
Identifiers
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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.