Evidence map›Paper›PMID 36456540›Full record

ArticlePediatric dermatology

SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation.

Summer N Meyer, Elanee M Simmons, John D McPherson, Smita Awasthi, Maija Kiuru

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric dermatology. 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
0.2field-weighted citation impact, top 37% 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, 1 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

5 authors at 2 institutions in 1 country.

Summer N MeyerDepartment of Dermatology, University of California Davis, Sacramento, California, USA.ORCID https://orcid.org/0000-0001-6157-5746
Elanee M SimmonsDepartment of Dermatology, University of California Davis, Sacramento, California, USA.
John D McPhersonDepartment of Biochemistry and Molecular Medicine, University of California Davis, Sacramento, California, USA.
Smita AwasthiDepartment of Dermatology, University of California Davis, Sacramento, California, USA.ORCID https://orcid.org/0000-0003-0683-5001
Maija KiuruDepartment of Dermatology, University of California Davis, Sacramento, California, USA.ORCID https://orcid.org/0000-0002-7010-5516
University of California, Davis · USUniversity of California Davis Medical Center · US

Funding

Molecular basis of melanocytic neviK23AR074530 · NIAMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KIURU, MAIJA HELENA TUULIA · 2019 to 2023
$840k
NIAMS NIH HHS K23 AR074530
6 · The paper itself

Abstract

We present a case of SCALP syndrome, which was diagnosed in a male infant with the characteristic findings of sebaceous nevi, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and giant congenital melanocytic nevi, or pigmented nevi. We identified a germline compound heterozygous DOCK6 mutation and a somatic mosaic NRAS Q61R mutation in the giant congenital melanocytic nevus. This report will increase clinician awareness of SCALP syndrome and augment the literature in characterizing this rare syndrome, including its genetic background.

Indexed as

Ectodermal DysplasiaNervous System MalformationsNevusSkin NeoplasmsGerm CellsGTP PhosphohydrolasesGuanine Nucleotide Exchange FactorsHumansInfantMaleMembrane ProteinsMutationNevus, PigmentedScalpDOCK6 protein, humanGTP PhosphohydrolasesGuanine Nucleotide Exchange FactorsMembrane ProteinsNRAS protein, humanaplasia cutis congenitagiant congenital melanocytic nevilimbal dermoidpigmented neviSCALPsebaceous nevi

Identifiers

PMID36456540
PMCPMC10250009
OpenAlexW4310599884

What OpenQuestion holds

Textmetadata
LicenceTDM
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.