Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
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Author / Creator
NISC Comparative Sequencing Program , Berger, Seth I. , Ciccone, Carla , Simon, Karen L. , Malicdan, May Christine , Vilboux, Thierry , Billington, Charles , Fischer, Roxanne , Introne, Wendy J. , Gropman, Andrea , Blancato, Jan K. , Mullikin, James C. , Gahl, William A. , Huizing, Marjan and Smith, Ann C. M.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
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Scope and Contents
Contents
Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the
RAI1
gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or
RAI1
va...
Alternative Titles
Full title
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5848494
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5848494
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-017-1767-x
