Evidence map›Paper›PMID 25614868›Full record

ArticleMolecular genetics & genomic medicine2014

Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.

Nicola Brunetti-Pierri, Maria Torrado, Maria Del Carmen Fernandez, Ana Maria Tello, Claudia L Arberas, Antonella Cardinale, Pasquale Piccolo, Carlos A Bacino

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2014. 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
0.3field-weighted citation impact, top 39% of its field
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, 4 citations in OpenAlex.

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

8 authors at 5 institutions in 3 countries.

Nicola Brunetti-PierriTelethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.
Maria TorradoServicio de Genética, Hospital Garraham Buenos Aires, Argentina.
Maria Del Carmen FernandezHospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
Ana Maria TelloHospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
Claudia L ArberasHospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
Antonella CardinaleTelethon Institute of Genetics and Medicine Naples, Italy.
Pasquale PiccoloTelethon Institute of Genetics and Medicine Naples, Italy.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine Houston, Texas.
Hospital General de Niños Ricardo Gutierrez · ARTelethon Institute Of Genetics And Medicine · ITBaylor College of Medicine · USGarrahan Hospital · ARUniversity of Naples Federico II · IT

Funding

Telethon TGM11Z04
6 · The paper itself

Abstract

Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies, pigmentary skin defects, digital fibromas, and generalized bone involvement due to a recurrent mutation in the filamin A (FLNA) gene. We here report the mutation c.5217G>A in FLNA in three families with TODPD and we found possible germline and somatic mosaicism in two out of the three families. The occurrence of somatic and germline mosaicism for TODPD indicates that caution should be taken in counseling recurrence risks for these conditions upon presentation of an isolated case.

Indexed as

Filamin AFLNAterminal osseous dysplasia with pigmentary defectsX-linked dominant

Identifiers

PMID25614868
PMCPMC4303216
OpenAlexW2155836583

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.