Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr...
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
About this item
Full title
Author / Creator
Monroe, Glen R , Kappen, Isabelle Fpm , Stokman, Marijn F , Terhal, Paulien A , van den Boogaard, Marie-José H , Savelberg, Sanne Mc , van der Veken, Lars T , van Es, Robert Jj , Lens, Susanne M , Hengeveld, Rutger C , Creton, Marijn A , Janssen, Nard G , Mink van der Molen, Aebele B , Ebbeling, Michelle B , Giles, Rachel H , Knoers, Nine V and van Haaften, Gijs
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The oral-facial-digital (OFD) syndromes comprise a group of related disorders with a combination of oral, facial and digital anomalies. Variants in several ciliary genes have been associated with subtypes of OFD syndrome, yet in most OFD patients the underlying cause remains unknown. We investigated the molecular basis of disease in two brothers wi...
Alternative Titles
Full title
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
Authors, Artists and Contributors
Author / Creator
Kappen, Isabelle Fpm
Stokman, Marijn F
Terhal, Paulien A
van den Boogaard, Marie-José H
Savelberg, Sanne Mc
van der Veken, Lars T
van Es, Robert Jj
Lens, Susanne M
Hengeveld, Rutger C
Creton, Marijn A
Janssen, Nard G
Mink van der Molen, Aebele B
Ebbeling, Michelle B
Giles, Rachel H
Knoers, Nine V
van Haaften, Gijs
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5117912
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5117912
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.103
