Dominant-NegativeGCMBMutations Cause an Autosomal Dominant Form of Hypoparathyroidism
نویسندگان
چکیده
منابع مشابه
A new form of autosomal dominant arthrogryposis.
We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.
متن کاملAutosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.
OBJECTIVE A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of p...
متن کاملAutosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2
Extracellular calcium is essential for life and its concentration in the blood is maintained within a narrow range. This is achieved by a feedback loop that receives input from the calcium-sensing receptor (CASR), expressed on the surface of parathyroid cells. In response to low ionized calcium, the parathyroids increase secretion of parathyroid hormone (PTH) which increases serum calcium. The ...
متن کاملAutosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.
Familial hypoparathyroidism is an unusual and genetically heterogeneous group of disorders that may be isolated or may be associated with congenital or acquired abnormalities in other organs or glands. We have evaluated a family with a novel syndrome of autosomal dominant hypoparathyroidism, short stature, and premature osteoarthritis. A 74-yr-old female (generation I) presented with hypoparath...
متن کاملPRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2008
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2007-2167