A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

Syuan-Yu Hong, I-Ching Chou, Wei-De Lin, Fuu-Jen Tsai

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Article in BioMedicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

1.2field-weighted citation impact, top 16% of its field

1 · What the graph read from it

What it found

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3 · Its place in the literature

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1 citing paper in PubMed, 5 citations in OpenAlex.

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.BMC oral health · 2024
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5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Syuan-Yu HongDepartment of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan.

I-Ching ChouDepartment of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan.

Wei-De LinDepartment of Medical Research, China Medical University and Hospital, Taichung, 404, Taiwan.

Fuu-Jen TsaiDepartment of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, 404, Taiwan. d0704@mail.cmuh.org.tw.

China Medical University · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.

Indexed as

Angelman-like syndromePitt-Hopkins syndromeTCF4 gene

Identifiers

PMID27864810

DOI10.7603/s40681-016-0025-1

PMCPMC5147553

OpenAlexW2551927685

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LicenceCC BY

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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.