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    Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome

    Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome by Khoodoruth, Mohamed Adil Shah

    Published 2025
    “…Genome-wide oligonucleotide array-based comparative genomic hybridization analysis, performed using the Human Genome CGH Microarray kit, identified an intragenic deletion of approximately 13 kilobases (kb) in the TRPV3 gene at cytogenetic band 17p13.2. …”
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