Evidence map›Paper›PMID 34602954›Full record

ArticleMolecular syndromology2021

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous

Manal M Thomas, Engy A Ashaat, Ghada A Otaify, Samira Ismail, Mona L Essawi, Mohamed S Abdel-Hamid, Heba A Hassan, Sonia A Alsaiedi, Mona Aglan, Mona O El Ruby and 1 more

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

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Deficiency ofInternational journal of molecular sciences · 2023
    Article
  3. Article
  4. 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

11 authors at 2 institutions in 1 country.

Manal M ThomasHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Engy A AshaatHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Ghada A OtaifyHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Samira IsmailHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Mona L EssawiHuman Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Mohamed S Abdel-HamidHuman Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Heba A HassanHuman Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Sonia A AlsaiediPediatric Department, Cairo University, Cairo, Egypt.
Mona AglanHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Mona O El RubyHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Samia TemtamyHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
National Research Centre · EGCairo University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the

Indexed as

CANT1Desbuquois dysplasiaGenotype-phenotype correlationHyperphalangismProminent lesser trochanter

Identifiers

PMID34602954
PMCPMC8436611
OpenAlexW3184496529

What OpenQuestion holds

Textmetadata
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.