Evidence map›Paper›PMID 42787795›Full record

ArticleHuman mutation2026

Clinical and Molecular Delineation of

Vito Luigi Colona, Maria Gnazzo, Annalidia Donato, Lavinia Fioretti, Alessandra Terracciano, Delia Monopoli, Paola Sabrina Buonuomo, Michaela Veronika Gonfiantini, Donatella Lettori, Roberta Taurisano and 6 more

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

Article in Human mutation, 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

16 authors.

Vito Luigi ColonaRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0002-9660-7397
Maria GnazzoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0003-0764-686X
Annalidia DonatoRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.
Lavinia FiorettiRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.
Alessandra TerraccianoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0001-9748-3982
Delia MonopoliRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0009-0002-0014-7574
Paola Sabrina BuonuomoRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0002-7944-8400
Michaela Veronika GonfiantiniRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0002-1753-5963
Donatella LettoriUnit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.
Roberta TaurisanoRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0002-7239-6337
Tommaso MazzaComputational Biology and Bioinformatics Unit, Agostino Gemelli University Hospital Foundation, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0003-0434-8533
Daniela ConcolinoPediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy, unicz.it.ORCID https://orcid.org/0000-0003-1223-7358
Mafalda MuccioloLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0003-2228-8271
Marina MacchiaioloRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0001-7409-8299
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0002-9037-4297
Davide VecchioRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, istitutotumori.na.it.ORCID https://orcid.org/0000-0003-2907-3206

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KAT6B-related disorders (KRDs) comprise a

Indexed as

BlepharophimosisCongenital HypothyroidismGenetic Association StudiesHeart Defects, CongenitalHistone AcetyltransferasesIntellectual DisabilityJoint InstabilityPatellaPsychomotor DisordersUrogenital AbnormalitiesChildChild, PreschoolCodon, NonsenseCraniofacial AbnormalitiesExome SequencingFaciesCodon, NonsenseHistone AcetyltransferasesKAT6B protein, humanGenitopatellar syndromegenotype–phenotype correlationKAT6B-related disordersobstructive sleep apneaRNA sequencingSay–Barber–Biesecker–Young–Simpson syndrome

Identifiers

PMID42787795
PMCPMC13602169

What OpenQuestion holds

Textmetadata
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.