Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
About this item
Full title
Author / Creator
DDD Study , Ragge, Nicola , Isidor, Bertrand , Bitoun, Pierre , Odent, Sylvie , Giurgea, Irina , Cogné, Benjamin , Deb, Wallid , Vincent, Marie , Le Gall, Jessica , Morton, Jenny , Lim, Derek , Le Meur, Guylène , Zazo Seco, Celia , Zafeiropoulou, Dimitra , Bax, Dorine , Zwijnenburg, Petra , Arteche, Anara , Swafiri, Saoud Tahsin , Cleaver, Ruth , McEntagart, Meriel , Kini, Usha , Newman, William , Ayuso, Carmen , Corton, Marta , Herenger, Yvan , Jeanne, Médéric , Calvas, Patrick and Chassaing, Nicolas
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
Two distinct syndromes arise from pathogenic variants in the X-linked gene
BCOR
(BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia (‘Lenz’-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused by a variety of
BCOR
null mutations. As it manifests only in...
Alternative Titles
Full title
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Authors, Artists and Contributors
Author / Creator
Ragge, Nicola
Isidor, Bertrand
Bitoun, Pierre
Odent, Sylvie
Giurgea, Irina
Cogné, Benjamin
Deb, Wallid
Vincent, Marie
Le Gall, Jessica
Morton, Jenny
Lim, Derek
Le Meur, Guylène
Zazo Seco, Celia
Zafeiropoulou, Dimitra
Bax, Dorine
Zwijnenburg, Petra
Arteche, Anara
Swafiri, Saoud Tahsin
Cleaver, Ruth
McEntagart, Meriel
Kini, Usha
Newman, William
Ayuso, Carmen
Corton, Marta
Herenger, Yvan
Jeanne, Médéric
Calvas, Patrick
Chassaing, Nicolas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01863370v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01863370v1
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-018-1896-x
