Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of si...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron, Gecz, Jozef
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2012
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376274/
https://ncbi.nlm.nih.gov/pubmed/22353940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.9
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items