Article
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Journal of medical genetics - 1 Jul 2018
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, van der Maarel Silvère M
Abstract excerpt
BACKGROUND: 18p 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 hemizygous in most patients with 18p deletions. Digenic...
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