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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2012
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk