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L. N. Samineni

1 paper indexed here

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Open access Sep 2026

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

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 cou...

Arimanda Chaitanya Laasya Reddy, A. Priya, Aditya Pachwa et al. · 0 citations

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