Evidence map›Paper›PMID 39119450›Full record

ArticleMolecular syndromology2024

Genetic Variability of

Ludovico Graziani, Miriam Lucia Carriero, Flavio Pozzi, Chiara Minotti, Aikaterini Andreadi, Alfonso Bellia, Rosario Ruta, Mario Bengala, Antonio Novelli, Davide Lauro and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

11 authors.

Ludovico GrazianiDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Miriam Lucia CarrieroDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Flavio PozziEndocrinology and Diabetology Unit, Tor Vergata University Hospital, Rome, Italy.
Chiara MinottiDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Aikaterini AndreadiDepartment of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.
Alfonso BelliaEndocrinology and Diabetology Unit, Tor Vergata University Hospital, Rome, Italy.
Rosario RutaTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Mario BengalaMedical Genetics Unit, Tor Vergata University Hospital, Rome, Italy.
Antonio NovelliTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Davide LauroEndocrinology and Diabetology Unit, Tor Vergata University Hospital, Rome, Italy.
Giuseppe NovelliDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Kallmann syndrome (KS) is a genetically heterogeneous developmental disorder that most often manifests hypogonadotropic hypogonadism (HH) and hypo-/anosmia due to early embryonic impairment in the migration of gonadotropin-releasing hormone neurons. Case Presentation: A 28-year-old female patient, who was clinically diagnosed with KS in her childhood, presented with HH and anosmia, mild bilateral sensorineural hearing loss (SNHL), and pigmentation abnormalities. Next-generation sequencing analysis detected a missense heterozygous Conclusion: Our finding substantiates the extreme phenotypic variability of

Indexed as

Exome sequencingFamily historyKallmann syndromeSOX10Waardenburg syndrome

Identifiers

PMID39119450
PMCPMC11305686

What OpenQuestion holds

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Registered trials

None linked

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.