Evidence map›Paper›PMID 42827512›Full record

ArticleFrontiers in pediatrics2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the

Júlia Martinková, Michaela Mihulová, Miroslava Balaščaková, Jan Trachta, Anna Křepelová

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Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Júlia MartinkováDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia.
Michaela MihulováDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia.
Miroslava BalaščakováDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia.
Jan TrachtaDepartment of Paediatric Surgery, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia.
Anna KřepelováDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Steroidogenic factor 1 (SF-1), encoded by the Case presentation: We report a unique case of a Czech family in which a father and his son exhibited a 46,XY karyotype, genital malformations, and palpable testes. Exome sequencing identified the heterozygous frameshift variant, c.614dup p.(Gln206Thrfs*20), in the Conclusion: Here, we present the first report of paternal transmission of the pathogenic NM_004959.5(NR5A1):c.614dup p.(Gln206Thrfs*20) variant to an affected son. Despite the associated genital malformation and the genetic variant, the father achieved successful reproduction via

Indexed as

disorders of sex developmentIVFmale phenotypeNR5A1 duplicationtesticular dysgenesis

Identifiers

PMID42827512
PMCPMC13630777

What Socratic holds

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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 Socratic graph.