Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

INTRODUCTION: Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D’Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Genome-Wide Studies
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5869459/
https://ncbi.nlm.nih.gov/pubmed/29378768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-105125
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