Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

BACKGROUND: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary ski...

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Detalles Bibliográficos
Autores principales: Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481077/
https://www.ncbi.nlm.nih.gov/pubmed/26120363
http://dx.doi.org/10.1186/s13039-015-0142-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481077/
https://www.ncbi.nlm.nih.gov/pubmed/26120363
http://dx.doi.org/10.1186/s13039-015-0142-7

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