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Updated: Aug 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation

Manisha Goyal1, Mohammed Faruq2, Ashok Gupta1

  • 1Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.

Journal of Pediatric Genetics
|April 24, 2023
PubMed

Keywords:
6q deletionarray CGHhypotonia

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