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Article

Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.

Indian journal of pediatrics - 1 Oct 2025

Yadav Sakshi, Madhumita R C, Gupta Neerja, Chauhan Sandeepa, Kusmakar Shweta, Balakrishnan Prahlad, Jana Manisha, Puri Ratna D, Phadke Shubha R, Kabra Madhulika

Abstract excerpt

OBJECTIVES: To evaluate the molecular aberrations at 11p15.5 locus in thirty-two patients with isolated lateralized overgrowth (ILO). METHODS: Among selected 32 cases of ILO, methylation-sensitive multiplex ligation-dependent probe amplification (MS-MLPA) was performed initially followed by short tandem repeats (STR) marker analysis to confirm uniparental disomy (UPD). In those patients with normal MLPA reports,...

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PMID: 39425824
DOI: 10.1007/s12098-024-05273-0

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CDKN1C

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