Moyamoya disease in two patients with Noonan‐like syndrome with loose anagen hair
Copyright policy )Moyamoya disease in two patients with Noonan‐like syndrome with loose anagen hair
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.
- National Taiwan University of Arts Taiwan
- National Taiwan University Hospital Taiwan
- Linkou Chang Gung Memorial Hospital Taiwan
- Chang Gung Memorial Hospital Taiwan
- Chang Gung University Taiwan
Male, Heterozygote, Base Sequence, Molecular Sequence Data, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Taiwan, Pedigree, Young Adult, Loose Anagen Hair Syndrome, Humans, Female, Moyamoya Disease, Child, Germ-Line Mutation, Hair, Skin
Male, Heterozygote, Base Sequence, Molecular Sequence Data, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Taiwan, Pedigree, Young Adult, Loose Anagen Hair Syndrome, Humans, Female, Moyamoya Disease, Child, Germ-Line Mutation, Hair, Skin
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