کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3085430 1189814 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Galloway-Mowat Syndrome: Neurologic Features in Two Sibling Pairs
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Galloway-Mowat Syndrome: Neurologic Features in Two Sibling Pairs
چکیده انگلیسی

Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs of siblings with Galloway-Mowat syndrome who illustrate the spectrum of neurologic findings, to increase awareness of this syndrome among pediatric neurologists.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 47, Issue 2, August 2012, Pages 129–132
نویسندگان
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