Family case of Potocki-Lupski syndrome

Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide var...

Source: Molecular Cytogenetics - March 22, 2024 Category: Molecular Biology Authors: L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko and L. D. Belotserkovtseva Tags: Case Report Source Type: research