A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report
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چکیده
منابع مشابه
MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
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BACKGROUND Monogenic obesity is a rare type of obesity caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. CASE PRESENTATION A two-and-half-year-old girl was presented to our clinic because of excessive weight gain and hyperphagia. She was born at full term, by normal vaginal delivery with birth weight o...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2019
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0039-1685190