Evidence map›Paper›PMID 42205255›Full record

ArticleFrontiers in endocrinology2026

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.

Yaroslav V Dvoryanchikov, Rita I Khusainova, Ildar R Minniakhmetov, Ramil R Salakhov, Kirill V Smirnov, Saida A Ibragimova, Ivan I Golodnikov, Elena A Sechko, Ekaterina A Dobreva, Natalia G Mokrysheva

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In one paragraph

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

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0citing papers in PubMed
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1 · What the graph read from it

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.

2 · The registry

The trial behind it

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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

10 authors.

Yaroslav V DvoryanchikovEndocrinology Research Centre, Moscow, Russia.
Rita I KhusainovaEndocrinology Research Centre, Moscow, Russia.
Ildar R MinniakhmetovEndocrinology Research Centre, Moscow, Russia.
Ramil R SalakhovEndocrinology Research Centre, Moscow, Russia.
Kirill V SmirnovEndocrinology Research Centre, Moscow, Russia.
Saida A IbragimovaEndocrinology Research Centre, Moscow, Russia.
Ivan I GolodnikovEndocrinology Research Centre, Moscow, Russia.
Elena A SechkoEndocrinology Research Centre, Moscow, Russia.
Ekaterina A DobrevaEndocrinology Research Centre, Moscow, Russia.
Natalia G MokryshevaEndocrinology Research Centre, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability. A comprehensive analysis of the molecular genetic features and intrafamilial variability of clinical manifestations was performed. In addition, clinical, laboratory, and instrumental findings were compared with those observed in a classical case of maturity-onset diabetes of the young type 5 (MODY5). Furthermore, the disease course associated with other genetic alterations affecting the 17q12 region, including 17q12 microduplications and various pathogenic variants of the

Indexed as

Chromosome DeletionChromosomes, Human, Pair 17Diabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-betaFemaleHumansPedigreeSmith-Magenis SyndromeHepatocyte Nuclear Factor 1-betaHNF1B protein, human17q12 recurrent deletion syndromeCNVdiabetes mellitusHNF1BMODY 5

Identifiers

PMID42205255
PMCPMC13201108

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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.