Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic...
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
About this item
Full title
Author / Creator
Basel-Vanagaite, Lina , Yilmaz, Rüstem , Tang, Sha , Reuter, Miriam S. , Rahner, Nils , Grange, Dorothy K. , Mortenson, Megan , Koty, Patrick , Feenstra, Heather , Farwell Gonzalez, Kelly D. , Sticht, Heinrich , Boddaert, Nathalie , Désir, Julie , Anyane-Yeboa, Kwame , Zweier, Christiane , Reis, André , Kubisch, Christian , Jewett, Tamison , Zeng, Wenqi and Borck, Guntram
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Biallelic mutations of
UBE3B
have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis–ptosis–intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic featur...
Alternative Titles
Full title
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Authors, Artists and Contributors
Author / Creator
Yilmaz, Rüstem
Tang, Sha
Reuter, Miriam S.
Rahner, Nils
Grange, Dorothy K.
Mortenson, Megan
Koty, Patrick
Feenstra, Heather
Farwell Gonzalez, Kelly D.
Sticht, Heinrich
Boddaert, Nathalie
Désir, Julie
Anyane-Yeboa, Kwame
Zweier, Christiane
Reis, André
Kubisch, Christian
Jewett, Tamison
Zeng, Wenqi
Borck, Guntram
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1554946158
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1554946158
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-014-1436-2
