A CASE OF AUTOSOMAL DOMINANT BILATERAL FAMILIAL ANIRIDIA
نویسندگان
چکیده
منابع مشابه
Familial hypothyroidism with autosomal dominant inheritance.
Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identific...
متن کاملClinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series
BACKGROUND The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS We retrospectively analysed genotypic and phenotypic data (age at symptom ...
متن کاملFamilial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?
Eight members of a large kindred of mixed ancestry from a remote rural area of South Africa were investigated for deafness. In each, severe permanent perceptive hearing loss had developed during antituberculous therapy with streptomycin sulphate in conventional doses. Although unproven by the data available in this study, the familial aggregation and pattern of distribution of sensitivity to st...
متن کاملFamilial pulmonary hypertension. Evidence of autosomal dominant inheritance.
A patient with primary pulmonary hypertension is the fourth member of a family proven to have the disease. The patient's father married twice; the disease appeared in both families, and was transmitted through two generations. Multiple genetic and environmental factors may result in pulmonary hypertension, but the distribution of cases in this family and in others reported is consistent with th...
متن کاملAutosomal Dominant familial erythrocytosis due to autonomous erythropoietin production.
A family is described in which four members spanning three consecutive generations have erythrocytosis associated with a normal hemoglobin oxygen affinity. When bone marrow from one affected family member was cultured in vitro, erythroid colonies formed only when erythropoietin was added to the culture. Serum erythropoietin, measured by radioimmunoassay, was significantly elevated above normal ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Evolution of Medical and Dental Sciences
سال: 2014
ISSN: 2278-4748,2278-4802
DOI: 10.14260/jemds/2014/2422