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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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2018
Matèries:
Genome-Wide Studies
Accés en línia: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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