Evidence map›Paper›PMID 33982229›Full record

ArticleJournal of applied genetics2021

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Aleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, Anna Kutkowska-Kaźmierczak, Anna Jakubiuk-Tomaszuk, Tatiana Chilarska, Jacek Pilch, Natalia Braun-Walicka, Jennifer Castaneda, Katarzyna Wołyńska and 9 more

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

Article in Journal of applied genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.Epileptic disorders : international epilepsy journal with videotape · 2026
    Article
  2. Review
  3. Mowat-Wilson Syndrome: Case Report and Review ofInternational journal of molecular sciences · 2024
    Review
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

19 authors at 9 institutions in 1 country.

Aleksandra JakubiakDepartment of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland. aleksandra.jakubiak@umed.wroc.pl.ORCID http://orcid.org/0000-0003-1827-0132
Krzysztof SzczałubaDepartment of Medical Genetics, Medical University, Warsaw, Poland.
Magdalena Badura-StronkaDepartment of Medical Genetics, Medical University, Poznan, Poland.
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Anna Jakubiuk-TomaszukDepartment of Neurology and Children Rehabilitation, Medical University, Bialystok, Poland.
Tatiana ChilarskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Jacek PilchDepartment of Paediatric Neurology, Medical University of Silesia, Katowice, Poland.
Natalia Braun-WalickaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jennifer CastanedaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Katarzyna WołyńskaDepartment of Medical Genetics, Medical University, Poznan, Poland.
Marzena WiśniewskaDepartment of Medical Genetics, Medical University, Poznan, Poland.
Monika KugaudoDepartment of Children and Adolescent Psychiatry, University Clinical Centre, Paediatric Teaching Clinical Hospital, Warsaw, Poland.
Monika BieleckaDepartment of Pharmaceutical Biotechnology, Medical University, Wroclaw, Poland.
Karolina PeszDepartment of Genetics, Medical University, Wroclaw, Poland.
Jolanta WierzbaDepartment of Internal and Paediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, Gdansk, Poland.
Anna Latos-BieleńskaDepartment of Medical Genetics, Medical University, Poznan, Poland.
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Małgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Robert ŚmigielDepartment of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland.
Poznan University of Medical Sciences · PLWroclaw Medical University · PLChildren's Memorial Health Institute · PLGdańsk Medical University · PLMedical University of Białystok · PLMedical University of Silesia · PLMedical University of Warsaw · PLPolish Mother’s Memorial Hospital Research Institute · PLUniversity Clinical Centre · PL

Funding

Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu SUB.E160.21.004
6 · The paper itself

Abstract

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

Indexed as

FaciesHirschsprung DiseaseIntellectual DisabilityMicrocephalyHumansPolandZinc Finger E-box Binding Homeobox 2ZEB2 protein, humanZinc Finger E-box Binding Homeobox 2Congenital anomaliesDysmorphismMowat-Wilson syndromePhenotypeZEB2 gene

Identifiers

PMID33982229
PMCPMC8357696
OpenAlexW3163112321

What OpenQuestion holds

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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.