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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN. Kashevarova AA, et al. Among authors: lopatkina me. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: lopatkina me. Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244536