a large multigeneration iranian family with autosomal dominant larsen syndrome

نویسندگان

navid almadani

farzaneh farhan

fariba afroozan

چکیده

larsen syndrome is a skeletal dysplasia (osteochondro-dysplasia) in which multiple dislocations of the large joints are the major feature . nosology in this group of disease, which constitutes 8% of mendelian disorders in man, is primarily based on clinical and radiological features. the underlying genetic defect is 3p21.1-p14.1 in the dominant type

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عنوان ژورنال:
genetics in the 3rd millennium

جلد ۱، شماره ۲، صفحات ۱۰۷-۱۰۹

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