Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

Abstract Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, emphasizing on searching for possible low...

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Main Authors: C. Salas-Labadía, S. Gómez-Carmona, R. Cruz-Alcívar, D. Martínez-Anaya, V. Del Castillo-Ruiz, C. Durán-McKinster, V. Ulloa-Avilés, E. Yokoyama-Rebollar, A. Ruiz-Herrera, P. Navarrete-Meneses, E. Lieberman-Hernández, A. González-Del Angel, D. Cervantes-Barragán, C. Villarroel-Cortés, A. Reyes-León, D. Suárez-Pérez, A. Pedraza-Meléndez, A. González-Orsuna, P. Pérez-Vera
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pigmentary mosaicism
Cytogenetic and molecular characterization
Genotype-phenotype correlation
Online Access:http://link.springer.com/article/10.1186/s13023-019-1208-0

Internet

http://link.springer.com/article/10.1186/s13023-019-1208-0

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