Trial reportHormone research in paediatrics2014
Whole exome sequencing to identify genetic causes of short stature.
Trial report in Hormone research in paediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.Hormone research in paediatrics · 2019Guideline
- Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.European journal of human genetics : EJHG · 2019Trial
- Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature.Journal of medical case reports · 2026Review
- Elevated IGF-1 levels are associated with accelerated bone age advancement during growth hormone therapy in children: a multicenter cohort study.Frontiers in endocrinology · 2026Observational
- Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.Journal of human genetics · 2025Article
- Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.Journal of clinical medicine · 2024Article
- Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).Molecular genetics & genomic medicine · 2024Review
- Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.International journal of molecular sciences · 2024Review
- Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.Annals of pediatric endocrinology & metabolism · 2024Article
- Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.Frontiers in genetics · 2024Article
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.World journal of clinical cases · 2023Article
- FAM111A is dispensable for electrolyte homeostasis in mice.Scientific reports · 2022Article
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.The Journal of clinical endocrinology and metabolism · 2022Article
- Functions and evolution of FAM111 serine proteases.Frontiers in molecular biosciences · 2022Review
- Case report: Late middle-aged features ofFrontiers in endocrinology · 2022Review
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- Review
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Authors and funding
7 authors.
Funding
Abstract
BACKGROUND/
aimsShort stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature.
methodsWe recruited 14 children with severe short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare non-synonymous genetic variants that cause the short stature.
resultsWe identified a genetic cause of short stature in 5 of the 14 patients. This included cases of floating-harbor syndrome, Kenny-Caffey syndrome, the progeroid form of Ehlers-Danlos syndrome, as well as 2 cases of the 3-M syndrome. For the remaining patients, we have generated lists of candidate variants.
conclusionsWhole exome sequencing can help identify genetic causes of short stature in the context of defined genetic syndromes, but may be less effective in identifying novel genetic causes of short stature in individual families. Utilized in the clinic, whole exome sequencing can provide clinically relevant diagnoses for these patients. Rare syndromic causes of short stature may be underrecognized and underdiagnosed in pediatric endocrinology clinics.
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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.