brachydactyly/asthenia

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Familial association of pseudohypoparathyroidism and psoriasis: case report.

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BACKGROUND The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of

Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder.

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Mitochondrial disorder (MtD) is usually a multisystem disease due to impaired mitochondrial energy production. Severe hypokalemia resulting in muscle weakness and rhabdomyolysis has not been reported as a phenotypic feature of MtD. Here we describe a 60-year-old male patient who developed myalgias

Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case.

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A 36 year-old woman with a history of asthenia and palpitations was admitted to the Cardiac Surgery Department of Tor Vergata University, in Rome. Physical examination revealed short stature, depressed nasal bridge, hypertelorism, hypoacusia, pectus excavatum, diffuse brachydactyly, clinodactyly of

Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

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BACKGROUND Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, short stature, and sc ossifications. Carpal tunnel syndrome (CTS) is a chief complaint in many patients with AHO. OBJECTIVE The objective

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

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Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early-onset joint contractures, progressive muscular weakness and wasting and late-onset cardiac disease. The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.

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MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 ~ 92 cluster) contributes to the pathogenesis of a variety of human diseases,

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