TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION
About this item
Full title
Author / Creator
Atik, T , Karaca, E , Ozkinay, E and Cogulu, O
Publisher
Switzerland: Éditions Médecine et Hygiène
Journal title
Language
English
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Publication information
Publisher
Switzerland: Éditions Médecine et Hygiène
Subjects
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Scope and Contents
Contents
Kleefstra or 9q subtelomeric deletion syndrome (9qSTDS) is a rare microdeletion syndrome. The most prominent phenotypic features include hypotonia, developmental retardation, as well as typical dysmorphic face. It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome. We present...
Alternative Titles
Full title
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION
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Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_1764138367
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1764138367
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ISSN
1015-8146
