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The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations

✍ Scribed by Andrea L. Gropman


Book ID
116751419
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
367 KB
Volume
4
Category
Article
ISSN
1567-7249

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## Abstract Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the __EHMT1__ gene. Both a single mutation and 9q34 microdeletions encompassing the entire gene can be responsible for this syndrome which is characterized by i