Evidence map›Paper›PMID 36097158›Full record

ArticleHuman genome variation2022

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara

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

Article in Human genome variation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
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

9 authors at 2 institutions in 1 country.

Atsushi HattoriDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan. hattori-a@ncchd.go.jp.ORCID http://orcid.org/0000-0003-1511-4820
Torayuki OkuyamaDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Tetsumin SoDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Motomichi KosugaDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Keiko IchimotoCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
Kei MurayamaCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
Masayo KagamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.ORCID http://orcid.org/0000-0003-3020-455X
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.ORCID http://orcid.org/0000-0001-9971-4035
Yasuyuki FukuharaDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
National Center For Child Health and Development · JPChiba Hospital · JP

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 22K15932National Center for Child Health and Development (NCCHD) 2022A-1
6 · The paper itself

Abstract

We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria. The phenotype of the present case was more severe than that of a previous case, demonstrating a phenotypic variation in the combination of argininosuccinic aciduria and SRS.

Identifiers

PMID36097158
PMCPMC9468177
OpenAlexW4295347081

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.