Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan

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Title:	Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan
Authors:	Shi, YR;Wu, JY;Hsu, YA;Lee, CC;Tsai, CH;Tsai, FJ
Contributors:	附設醫院醫研部;China Med Coll Hosp, Dept Med Res, Taichung 404, Taiwan;China Med Coll Hosp, Dept Pediat, Taichung 404, Taiwan;China Med Coll Hosp, Dept Med Genet, Taichung 404, Taiwan;China Med Coll Hosp, Dept Neurol, Taichung 404, Taiwan
Date:	2002
Issue Date:	2010-09-24 14:56:21 (UTC+8)
Publisher:	MARY ANN LIEBERT INC PUBL
Abstract:	The onset of ankylosing spondylitis is usually characterized by lower back pain and stiffness in young adults; early diagnosis is not easy, but the disease is generally identified within a few years of onset. Anterior atlantoaxial subluxation may occur in the late stage of ankylosing spondylitis, but early spontaneous subluxation is rarely seen. We present a case of ankylosing spondylitis with an initial symptom of neck pain, rather than lower back pain, due to spontaneous anterior atlantoaxial subluxation. After medical and surgical intervention, except for limited range of motion, the patient experienced neither neck pain nor weakness of his left limbs during the next 8 mo of follow-up.
Relation:	GENETIC TESTING 6(3):237-243
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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