Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
About this item
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Author / Creator
Balog, Judit , Goossens, Remko , Lemmers, Richard J L F , Straasheijm, Kirsten R , van der Vliet, Patrick J , Heuvel, Anita van den , Cambieri, Chiara , Capet, Nicolas , Feasson, Léonard , Manel, Veronique , Contet, Julian , Kriek, Marjolein , Donlin-Smith, Colleen M , Ruivenkamp, Claudia A L , Heard, Patricia , Tapscott, Stephen J , Cody, Jannine D , Tawil, Rabi , Sacconi, Sabrina and van der Maarel, Silvère M
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
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More information
Scope and Contents
Contents
Background18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is he...
Alternative Titles
Full title
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Authors, Artists and Contributors
Author / Creator
Goossens, Remko
Lemmers, Richard J L F
Straasheijm, Kirsten R
van der Vliet, Patrick J
Heuvel, Anita van den
Cambieri, Chiara
Capet, Nicolas
Feasson, Léonard
Manel, Veronique
Contet, Julian
Kriek, Marjolein
Donlin-Smith, Colleen M
Ruivenkamp, Claudia A L
Heard, Patricia
Tapscott, Stephen J
Cody, Jannine D
Tawil, Rabi
Sacconi, Sabrina
van der Maarel, Silvère M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6019561
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6019561
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-105153
