Evidence map›Paper›PMID 40586991›Full record

ArticleNeurogenetics2025

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

Simone Gana, Luisa Piccinni, Elisa Rognone, Alessia Beverino, Costanza Varesio, Alessia Asaro, Anna Pichiecchio, Enza Maria Valente

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In one paragraph

Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

8 authors.

Simone GanaNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Luisa PiccinniDepartment of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
Elisa RognoneDepartment of Neuroradiology, IRCSS Mondino Foundation, Pavia, Italy.
Alessia BeverinoDepartment of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
Costanza VaresioDepartment of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
Alessia AsaroNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Anna PichiecchioDepartment of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
Enza Maria ValenteNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

RASopathies are a wide group of multisystemic disorders caused by pathogenic variants in genes belonging to the RAS/MAPK pathway. Among these, PPP1CB gene variants cause Noonan syndrome-like disorder with loose anagen hair 2 (NSLAH2), a rare condition with neuro-cardio-facio-skeletal involvement and the peculiar loose anagen hair. We report on a girl carrying the recurrent c.146 C > G (p.Pro49Arg) pathogenic variant, who presented the classical NSLH features associated with a previously unreported complete commissural agenesis, likely expanding the phenotype. The prominent role of Ras protein in oligodendrocyte maturation and differentiation might lend biological plausibility to the myelination impairment observed in our patient.

Indexed as

Agenesis of Corpus CallosumLoose Anagen Hair SyndromeNoonan SyndromeChildFemaleHumansMutationPhenotypeProtein Phosphatase 1PPP1CB protein, humanProtein Phosphatase 1Commissural agenesisExome sequencingNoonan-like syndrome with loose anagen hairPPP1CB

Identifiers

PMID40586991

What OpenQuestion holds

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Registered trials

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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.