https://scholars.lib.ntu.edu.tw/handle/123456789/525120
標題: | Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair | 作者: | Lo F.-S. Wang C.-J. Wong M.-C. NI-CHUNG LEE |
關鍵字: | Moyamoya syndrome; Noonan syndrome; Noonan-like syndrome with loose anagen hair; SHOC2 gene | 公開日期: | 2015 | 出版社: | Wiley-Liss Inc. | 卷: | 167 | 期: | 6 | 起(迄)頁: | 1285-1288 | 來源出版物: | American Journal of Medical Genetics, Part A | 摘要: | Moyamoya disease is a unique chronic cerebrovascular condition caused by progressive stenosis of the arteries around the circle of Willis with prominent arterial collateral circulation. Noonan-like syndrome with loose anagen hair (NSLH) is characterized by short stature, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair. Mutations in SHOC2 have been reported to underlie NSLH. In this paper, we describe two individuals with NSLH who also have moyamoya disease and in whom heterozygous germline mutation in SHOC2 was found. ? 2015 Wiley Periodicals, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84929948615&doi=10.1002%2fajmg.a.37053&partnerID=40&md5=53b30eb2bcfe69951e37912969d3aa79 https://scholars.lib.ntu.edu.tw/handle/123456789/525120 |
ISSN: | 1552-4825 | DOI: | 10.1002/ajmg.a.37053 | SDG/關鍵字: | growth hormone; SHOC2 protein, human; signal peptide; adult; Article; atrioventricular block; bone age; brain atrophy; carotid artery obstruction; case report; child; delayed puberty; developmental disorder; encephalomalacia; epileptic discharge; female; gene; gene sequence; growth hormone deficiency; headache; heart atrium septum defect; heart ventricle tachycardia; human; loose anagen hair syndrome; magnetic resonance angiography; male; missense mutation; moyamoya disease; nausea; Noonan syndrome; pericardial effusion; priority journal; psychomotor disorder; school child; SHOC2 gene; short stature; young adult; genetics; germline mutation; hair; heterozygote; loose anagen hair syndrome; metabolism; molecular genetics; moyamoya disease; Noonan syndrome; nucleotide sequence; pathology; pedigree; skin; Taiwan; vascularization; Base Sequence; Child; Female; Germ-Line Mutation; Hair; Heterozygote; Humans; Intracellular Signaling Peptides and Proteins; Loose Anagen Hair Syndrome; Male; Molecular Sequence Data; Moyamoya Disease; Noonan Syndrome; Pedigree; Skin; Taiwan; Young Adult |
顯示於: | 醫學系 |
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