ReviewJournal of medical case reports2019
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Review in Journal of medical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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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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.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Diagnostic Challenges in Severe Electrolyte Imbalance in Early Infancy: A Case Report of Secondary Pseudohypoaldosteronism.Pediatric reports · 2026Article
- Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.Journal of anatomy · 2025Article
- Case Report: Autoimmune hepatitis in a patient with pseudohypoaldosteronism type 1-insights into a rare co-occurrence.Frontiers in pediatrics · 2025Article
- CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.European journal of human genetics : EJHG · 2023Article
- Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.Molecular genetics & genomic medicine · 2022Article
- Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy WithFrontiers in genetics · 2022Article
- Cyclin-dependent kinases and rare developmental disorders.Orphanet journal of rare diseases · 2020Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIt is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. CASE PRESENTATION: A 37-day-old Yemenite Jewish girl was presented to our institution with a clinical picture of pseudohypoaldosteronism due to abnormal facial features and a psychomotor developmental delay. Further investigation led to the diagnosis of CDK13-related disorder. According to the literature, CDK13 has a key role in the cell cycle, but no interference with the aldosterone signaling pathway or electrolyte balance was described. No mutations in the previously described gene NR3C2 (cytogenetic location 4q31.23), encoding the mineralocorticoid receptor, were found. Although the clinical presentation corresponded to pseudohypoaldosteronism type 1, we could not genetically confirm this.
conclusionsProbably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.
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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.