Evidence map›Paper›PMID 42100784›Full record

ArticleFrontiers in psychiatry2026

Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report.

Katerina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, Tihomir Todorov, Albena Todorova, Liliyana Grozdanova, Margarita Panova, Mariyana Georgieva, Ivan Stefanov Ivanov

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in psychiatry, 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

9 authors.

Katerina GaberovaPediatrics Department, Medical University Plovdiv, Plovdiv, Bulgaria.
Iliyana Hristova PachevaPediatrics Department, Medical University Plovdiv, Plovdiv, Bulgaria.
Ralitsa YordanovaPediatrics Department, Medical University Plovdiv, Plovdiv, Bulgaria.
Tihomir TodorovGenica Laboratory, Sofia, Bulgaria.
Albena TodorovaGenica Laboratory, Sofia, Bulgaria.
Liliyana GrozdanovaMedical Center Raredis, Plovdiv, Bulgaria.
Margarita PanovaPediatrics Department, Medical University Plovdiv, Plovdiv, Bulgaria.
Mariyana GeorgievaPediatrics Department, University Hospital Prof. Dr. Ivan Kirkovich, Stara Zagora, Bulgaria.
Ivan Stefanov IvanovPediatrics Department, Medical University Plovdiv, Plovdiv, Bulgaria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked intellectual disability (XLID) is a well-recognized group of neurodevelopmental disorders, with pathogenic variants in X-chromosomal genes accounting for approximately 16% of intellectual disability cases in males. Clinical expression in females is variable and depends on patterns of X-chromosome inactivation. We describe three affected individuals from a single family with XLID caused by a confirmed duplication of the Xq28 region, including the genes

Indexed as

gene dosage effectintellectual disabilityintrafamilial variabilityMECP2 duplication syndromeXq28 duplication

Identifiers

PMID42100784
PMCPMC13144141

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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.