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MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC. San Antonio-Arce V, et al. Among authors: cotarelo perez mc. Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503606 Free PMC article.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M. Damián A, et al. Among authors: cotarelo perez mc. Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713. Int J Mol Sci. 2021. PMID: 34884523 Free PMC article.
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
Fernández-Rebollo E, Pérez O, Martinez-Bouzas C, Cotarelo-Pérez MC, Garin I, Ruibal JL, Pérez-Nanclares G, Castaño L, de Nanclares GP. Fernández-Rebollo E, et al. Among authors: cotarelo perez mc. Eur J Endocrinol. 2009 Apr;160(4):711-7. doi: 10.1530/EJE-08-0865. Eur J Endocrinol. 2009. PMID: 19332529