| 概要 |
Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by a global developmental delay, pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. It has been reported that mutations in BCAS3 cause this disease. BCAS3 is well established as a critical protein regulating the cytoskeleton in endothelial migration as well as in sprouting angiogenesis.
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| 著者 |
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M, Riess A, Haack TB, Nagele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schols L |
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