Evidence map›Paper›PMID 30672094›Full record

ArticleAmerican journal of medical genetics. Part A2019

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

Michael Muriello, Alexander Y Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E Hoover-Fong

Open access · greenAbstract readCase Reports
In one paragraph

Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

9 citing papers in PubMed, 10 citations in OpenAlex.

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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 1 institution in 1 country.

Michael MurielloMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.ORCID 0000-0003-0386-7622
Alexander Y KimMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Krista Sondergaard SchatzMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Natalie BeckMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Meral Gunay-AygunMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Julie E Hoover-FongMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.ORCID 0000-0002-1242-5626
Johns Hopkins University · US

Funding

Postdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0M
NIGMS NIH HHS T32 GM007471
6 · The paper itself

Abstract

We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature.

Indexed as

CognitionGenetic Association StudiesPhenotypeAbnormalities, MultipleAdultAgedAortaEyelidsFemaleGrowth ChartsHuman Growth HormoneHumansIntellectual DisabilityLimb Deformities, CongenitalMagnetic Resonance ImagingMaleHuman Growth Hormoneaortic dilationFeingold syndromegrowth hormone deficiencyMIR17HG

Identifiers

PMID30672094
PMCPMC7038632
OpenAlexW2911267666

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.