ArticleWorld journal of clinical cases2019
Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by
Article in World journal of clinical cases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.Endocrine journal · 2025Review
- Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2025Article
- Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.Pediatric nephrology (Berlin, Germany) · 2024Article
- Review
- A Novel Osteochondrodysplasia With Empty Sella Associates With aFrontiers in endocrinology · 2022Article
- Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.Frontiers in endocrinology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe CASE SUMMARY: We reported the case of a 26-year-old Chinese man who was admitted because of short stature. Physical examination showed that he had many abnormal symptoms, including a short neck, facial moles, knee valgus, transverse palm, continuous grade 5/6 murmurs in the pulmonary auscultation area, no whiskers, or pubic hair, no Adam's apple, short penis and cryptorchidism. Radiological examination showed pituitary, gonad, heart, kidney and skeletal dysplasia. The laboratory tests revealed low growth hormone, luteinizing hormone, follicle-stimulating hormone, testosterone and estrogen. Clinical whole-exome detection showed that our patient, unlike previously reported patients, has a new
conclusionPatients who come to a hospital because of their short stature must undergo gene detection if they have other simultaneous abnormal phenotypes.
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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.