کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904926 1569519 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Original articleRheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Original articleRheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
چکیده انگلیسی

Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset rheumatologic and neurological symptoms.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 54, Issue 4, July–August 2011, Pages e405-e408
نویسندگان
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