Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence o...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376266/
https://ncbi.nlm.nih.gov/pubmed/22293690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.1
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki