Evidence map›Paper›PMID 30179896›Full record

ArticleClinical dysmorphology2019

UBE2A-related X-linked intellectual disability.

Roger E Stevenson, Albert E Chudley, Anand K Srivastava, Jayson Rodriguez, Michael J Friez, Charles E Schwartz

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

Article in Clinical dysmorphology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Review
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

6 authors at 2 institutions in 2 countries.

Roger E StevensonGreenwood Genetic Center, Greenwood, South Carolina, USA.
Albert E ChudleyUniversity of Manitoba, Winnipeg, Manitoba, Canada.
Anand K SrivastavaGreenwood Genetic Center, Greenwood, South Carolina, USA.
Jayson RodriguezGreenwood Genetic Center, Greenwood, South Carolina, USA.
Michael J FriezGreenwood Genetic Center, Greenwood, South Carolina, USA.
Charles E SchwartzGreenwood Genetic Center, Greenwood, South Carolina, USA.
Greenwood Genetic Center · USUniversity of Manitoba · CA

Funding

Identification of Novel X-linked Intellectual Disability GenesR01NS073854 · NINDS · GREENWOOD GENETIC CENTER · PI SCHWARTZ, CHARLES E, WANG, TAO · 2011 to 2013
$1.4M
NINDS NIH HHS R01 NS073854
6 · The paper itself

Abstract

UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia.

Indexed as

Genes, X-LinkedAdultChild, PreschoolDiagnosis, DifferentialFemaleHumansInfantIntellectual DisabilityMaleMutationPedigreePregnancyUbiquitin-Conjugating EnzymesYoung AdultUBE2A protein, humanUbiquitin-Conjugating Enzymes

Identifiers

PMID30179896
PMCPMC6279472
OpenAlexW2889330896

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.