A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
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منابع مشابه
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15 صفحه اولinfant boy with microcephaly gastroesophageal reflux and nephrotic syndrome (galloway-mowat syndrome): a case report
in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2018
ISSN: 1471-2350
DOI: 10.1186/s12881-018-0649-y