Evidence map›Paper›PMID 33536409›Full record

ArticleHuman genome variation2021

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa

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

Article in Human genome variation, 2021. 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 51% 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

10 authors at 4 institutions in 1 country.

Moritake HigaDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Akiko ZahaDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Akiko TakushiDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Nami MorishimaDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Toyofumi MajikinaDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Takeshi ToumaDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Michio ShimabukuroDiabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Hiroaki MasuzakiDivision of Endocrinology, Diabetes and Metabolism, Hematology, Rheumatology, Department of Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
Misa HondaDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Tomonobu HasegawaDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan. thaseg@keio.jp.
Tomishiro Central Hospital · JPKeio University · JPFukushima Medical University · JPUniversity of the Ryukyus · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.

Identifiers

PMID33536409
PMCPMC7859387
OpenAlexW3128953782

What OpenQuestion holds

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LicenceCC BY
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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.