title: Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.
abstract: 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.
authors: Division of Pediatric Endocrinology and Genetics, Department of Pediatrics, Chang-Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Fu-Sung
authors: FS
authors: Lo
authors: Department of Medical Imaging and Intervention, Chang-Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Chao-Jan
authors: CJ
authors: Wang
authors: Department of Medical Imaging and Intervention, Chang-Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Mun-Ching
authors: MC
authors: Wong
authors: Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
authors: Ni-Chung
authors: NC
authors: Lee
mesh_terms: D001483:Base Sequence; D002648:Child; D005260:Female; D018095:Germ-Line Mutation; D006197:Hair / Q000378:metabolism / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D058247:Loose Anagen Hair Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009072:Moyamoya Disease / Q000235:genetics* / Q000473:pathology; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012867:Skin / Q000098:blood supply / Q000378:metabolism / Q000473:pathology; D013624:Taiwan; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C112913:SHOC2 protein, human
keywords: Noonan syndrome; Noonan-like syndrome with loose anagen hair; SHOC2 gene; moyamoya syndrome