Evidence map›Paper›PMID 40734301›Full record

ArticleProblemy endokrinologii2025

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

N A Makretskaya, O R Ismagilova, E A Shestopalova, M V Sharova, O A Levchenko, A V Bolmasova, M V Bulakh, V V Zabnenkova, A A Orlova, A A Kolodkina and 3 more

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

Article in Problemy endokrinologii, 2025. 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

13 authors.

N A MakretskayaResearch Centre for Medical Genetics.
O R IsmagilovaResearch Centre for Medical Genetics.
E A ShestopalovaResearch Centre for Medical Genetics.
M V SharovaResearch Centre for Medical Genetics.
O A LevchenkoResearch Centre for Medical Genetics.
A V BolmasovaResearch Centre for Medical Genetics.
M V BulakhResearch Centre for Medical Genetics.
V V ZabnenkovaResearch Centre for Medical Genetics.
A A OrlovaResearch Centre for Medical Genetics.
A A KolodkinaI.I. Dedov Endocrinology Research Centre.
O P RyzhkovaResearch Centre for Medical Genetics.
A V PoliakovResearch Centre for Medical Genetics.
A N TiulpakovResearch Centre for Medical Genetics; Russian Children's Clinical Hospital.

Funding

Non-US Government Research Support type
6 · The paper itself

Abstract

Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.

Indexed as

Abnormalities, MultipleCraniofacial AbnormalitiesCraniosynostosesGrowth DisordersChildChild, PreschoolFemaleHeart Septal Defects, VentricularHumansInfantMale

Identifiers

PMID40734301
PMCPMC12319634

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.