Evidence map›Paper›PMID 30563316›Full record

ArticleJournal of clinical research in pediatric endocrinology2019

A Patient with Berardinelli-Seip Syndrome, Novel

Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. The Role of theInternational journal of molecular sciences · 2025
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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

13 authors at 4 institutions in 2 countries.

Joanna OswiecimskaMedical University of Silesia in Katowice, Department of Pediatrics in Zabrze, Silesia, PolandORCID 0000-0003-3151-0487
Mateusz DawidziukInstitute of Mother and Child, Department of Medical Genetics, Warsaw, PolandORCID 0000-0001-5102-8722
Tomasz GambinInstitute of Mother and Child, Department of Medical Genetics, Warsaw, PolandORCID 0000-0002-0941-4571
Katarzyna ZioraMedical University of Silesia in Katowice, Department of Pediatrics in Zabrze, Silesia, PolandORCID 0000-0002-6977-6021
Marta MarekMedical University of Silesia in Katowice, Department of Pediatrics in Bytom, Silesia, PolandORCID 0000-0001-6166-3068
Sylwia RzoncaInstitute of Mother and Child, Department of Medical Genetics, Warsaw, PolandORCID 0000-0002-7372-2472
D. Lys GuilbrideNo current affiliationORCID 0000-0002-1139-6034
Shalini N. JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Texas, USAORCID 0000-0002-6674-0074
Anna ObuchowiczMedical University of Silesia in Katowice, Department of Pediatrics in Bytom, Silesia, PolandORCID 0000-0002-8725-5406
Alicja SikoraMedical University of Silesia in Katowice, Department of Pediatrics in Bytom, Silesia, PolandORCID 0000-0002-6655-1679
James R. LupskiBaylor College of Medicine, Department of Molecular and Human Genetics, Texas, USAORCID 0000-0001-9907-9246
Wojciech WiszniewskiInstitute of Mother and Child, Department of Medical Genetics, Warsaw, PolandORCID 0000-0002-1792-5152
Pawel GawlinskiInstitute of Mother and Child, Department of Medical Genetics, Warsaw, PolandORCID 0000-0002-3672-5834
Medical University of Silesia · PLBaylor College of Medicine · USOregon Health & Science University · USWarsaw University of Technology · PL

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
NHGRI NIH HHS UM1 HG006542
6 · The paper itself

Abstract

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic peripheral neuropathy and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the

Indexed as

MutationAcyltransferasesAdultFemaleHumansInfantLipodystrophy, Congenital GeneralizedMalePedigreePolyneuropathiesPrognosisRNA Splice Sites2-acylglycerophosphate acyltransferaseAcyltransferasesRNA Splice SitesAGPAT2Berardinelli-Seip syndromecongenital generalized lipodystrophyfat biologypolyneuropathyseipinopathy

Identifiers

PMID30563316
PMCPMC6745459
OpenAlexW2903734218

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.