A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
Anna A. Kashevarova, Lyudmila P. Nazarenko, Nikolay A. Skryabin, Tatiana V. Nikitina, Stanislav A. Vasilyev, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Olga A. Salyukova, Nataliya N. Chechetkina, Ekaterina A. Vorotelyak, Ekaterina P. Kalabusheva, Veniamin S. Fishman, Julia Kzhyshkowska, Claudio Graziano, Pamela Magini, Giovanni Romeo, Igor N. Lebedev
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Подробные сведения о темах исследования «A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability». Вместе они формируют уникальный семантический отпечаток (fingerprint).