Evidence map›Paper›PMID 30370152›Full record

ArticleCase reports in endocrinology2018

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the

Ana Patricia Torga, Juanita Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
  2. Article
  3. A Korean male with Kleefstra syndrome presented with micropenis.Annals of pediatric endocrinology & metabolism · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Ana Patricia TorgaSummer Intern, Division of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, 111 Plain St, 3rd Floor, Providence, RI 02903, USA.
Juanita HodaxDivision of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, 111 Plain St, 3rd Floor, Providence, RI 02903, USA.
Mari MoriDivision of Human Genetics, Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, 2 Dudley Street, Suite 460, Providence, RI 02903, USA.ORCID 0000-0001-6425-7137
Jennifer SchwabDivision of Human Genetics, Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, 2 Dudley Street, Suite 460, Providence, RI 02903, USA.
Jose Bernardo QuintosDivision of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, 111 Plain St, 3rd Floor, Providence, RI 02903, USA.ORCID 0000-0003-1691-2293

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However, endocrinological investigations have been limited. We describe a case of an adolescent male with Kleefstra syndrome due to a pathogenic variant in the

Identifiers

PMID30370152
PMCPMC6189678

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Registered trials

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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.