Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
نویسندگان
چکیده
منابع مشابه
Fox-Fordyce disease in daughter and father.
On examination, discrete 2to 3-mm perifollicular papules localized to the bilateral axillae ( fig. 1 ) and the pubic area were noted. The color of the papules ranged from flesh-colored to slightly hypopigmented. Additionally, her left axilla showed areas of superficial erosion, erythema and overlying honey-colored crust ( fig. 2 ). Of particular interest, the patient’s father was also examined ...
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Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
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Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case repo...
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The occurrence of myositis in a father and his daughter is reported. The daughter's illness resembled childhood dermatomyositis and progressed to systemic involvement and death less than four years from the onset of symptoms. In the case of the father the illness followed the course of adult polymyositis and there was little evidence of systemic involvement. The immunological and genetic signif...
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ژورنال
عنوان ژورنال: Bone Reports
سال: 2018
ISSN: 2352-1872
DOI: 10.1016/j.bonr.2018.09.001