HEREDITARY NEPHROPATHY WITH DEAFNESS (ALPORT'S SYNDROME), A CASE RECORD ON A JAPANEASE FAMILY
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چکیده
منابع مشابه
Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1973
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.62.360