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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4481077/
https://ncbi.nlm.nih.gov/pubmed/26120363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0142-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados