Učitavanje...
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...
Spremljeno u:
| Izdano u: | J Med Genet |
|---|---|
| Glavni autori: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
2018
|
| Teme: | |
| Online pristup: | 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 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|