Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

BACKGROUND: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has...

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Detalles Bibliográficos
Autores principales: Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098576/
https://www.ncbi.nlm.nih.gov/pubmed/30140312
http://dx.doi.org/10.1186/s13039-018-0395-z

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