Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease
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چکیده
منابع مشابه
Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.
Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...
متن کاملSHORT REPORT Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease
Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2003
ISSN: 0022-3050
DOI: 10.1136/jnnp.74.5.654