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GENETIC INSIGHTS INTO 3-M SYNDROME: A NEONATAL CASE REPORT
Journal: International Journal of Advanced Research (Vol.12, No. 10)Publication Date: 2024-10-15
Authors : Kanakaveetipranav; Vinaykumar S.;
Page : 765-767
Keywords : ;
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Abstract
3-M syndrome is an uncommon autosomal recessive disorder. We present a case of a one-day-old infant with low birth weight, an enlarged head, and shortened limbs, initially suspected of skeletal dysplasia. Genetic testing confirmed the diagnosis of 3-M syndrome.
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Last modified: 2024-12-02 15:49:45