Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family
نویسندگان
چکیده
منابع مشابه
A case of Farber lipogranulomatosis.
A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules, hoarseness, swallowing difficulty with recurrent respiratory infections, nystagmus, and mental and developmental retardation. She was misdiagnosed as having juvenile rheumatoid arthritis at several univers...
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Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2006
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-006-0019-z