Evidence map›Paper›PMID 40070859›Full record

ArticleBalkan journal of medical genetics : BJMG2024

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

N Ilic, N Mitrovic, R Radeta, S Krasić, V Vukomanović, G Samardzija, M Vasic, A Vlahovic, A Sarajlija

Abstract read
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  2. 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

9 authors.

N IlicClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
N MitrovicDepartment of Clinical Pathology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic",, 11070 Belgrade, Serbia.
R RadetaDepartment for the Diagnosis and Treatment of Hematological and Oncological Diseases, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
S KrasićDepartment of Cardiology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
V VukomanovićDepartment of Cardiology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
G SamardzijaDepartment of Clinical Pathology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic",, 11070 Belgrade, Serbia.
M VasicDepartment of Plastic and Reconstructive Surgery, Mother and Child Health Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
A VlahovicFaculty of Medicine, Department of Pediatrics, University of Belgrade, 11070 Belgrade, Serbia.
A SarajlijaClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cowden syndrome (CS) represents a rare autosomal dominant disorder caused by mutations in the

Indexed as

Cowden syndrome (CS)Genetic counsellingPhenotypePTEN gene

Identifiers

PMID40070859
PMCPMC11892943

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.