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Audiologic and otolaryngologic findings in progeria: case report.
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Progeria is a rare syndrome, with an estimated incidence of 1 per 250,000 births. Although children with progeria have the appearance of premature aging or senility, the term is misleading because reported cases of progeria have not manifested most physical or biochemical aspects of old age. Many
Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome.
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OBJECTIVE
To define the audiologic and otologic phenotype of Hutchinson-Gilford progeria syndrome (HGPS).
METHODS
Prospective case series.
METHODS
Fifteen patients with HGPS were enrolled in a prospective natural history study; 14 were evaluated in the neurotology clinic, and 11 received audiologic
Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.
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A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG)
Congenital DNA repair deficiency results in protection against renal ischemia reperfusion injury in mice.
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Cockayne syndrome and other segmental progerias with inborn defects in DNA repair mechanisms are thought to be due in part to hypersensitivity to endogenous oxidative DNA damage. The accelerated aging-like symptoms of this disorder include dysmyelination within the central nervous system,
The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells.
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Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, sensorineural hearing loss, and retinal degradation. CS-B cells
Gene screening facilitates diagnosis of complicated symptoms: A case report.
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Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
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Background: Pathogenic variants in lamin A/C (LMNA) cause a variety of progeroid disorders including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome. Six families with 11 patients
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