Evidence map›Paper›PMID 32615693›Full record

ArticleAnnals of pediatric endocrinology & metabolism2020

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Hyun Woo Son, Jeong Eun Lee, Seung Hwan Oh, Changwon Keum, Woo Yeong Chung

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Annals of pediatric endocrinology & metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.2field-weighted citation impact, top 25% 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

8 citing papers in PubMed, 9 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

5 authors at 1 institution in 1 country.

Hyun Woo Son1 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea.
Jeong Eun Lee1 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea.
Seung Hwan OhDepartment of Diagnostic Laboratory Medicine, Inje University Busan Paik Hospital, Busan, Korea.
Changwon KeumRare Genetic Disease Research Center, 3 Billion, Seoul, Korea.
Woo Yeong Chung1 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea.
Inje University Busan Paik Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.

Indexed as

Floating-Harbor syndromeGrowth hormonePediatricSRCAP

Identifiers

PMID32615693
PMCPMC7336260
OpenAlexW3038870031

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.