Evidence map›Paper›PMID 42812749›Full record

ArticleClinical case reports2026

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion-Dependent Anemia in an Indian Child: A Case Report.

Arimanda Chaitanya Laasya Reddy, A Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2026. 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
–field-weighted citation impact
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.

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

6 authors.

Arimanda Chaitanya Laasya ReddyMallareddy Institute of Medical Sciences Hyderabad India.
A Vamshee PriyaMallareddy Institute of Medical Sciences Hyderabad India.
Aditya PachwaMamata Academy of Medical Sciences Hyderabad India.ORCID https://orcid.org/0009-0007-5470-7721
Boilla Abhignya ReddyNeelima Institute of Medical Sciences Hyderabad India.
Lakshya Nehal SamineniCollege of Medical Sciences Teaching Hospital Bharatpur Chitwan Nepal.ORCID https://orcid.org/0009-0003-6635-5226
Lanka Gourav ReddyMallareddy Institute of Medical Sciences Hyderabad India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In children with unexplained multisystem involvement-global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion-dependent anemia-especially from consanguineous families, whole-exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.

Indexed as

anemiaconsanguinitydevelopmental disabilitieshumantransfusion‐dependentwhole exome sequencingZNF699 protein

Identifiers

PMID42812749
PMCPMC13620214

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.