Add to ORKGAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5-15). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4 kHz) of 48.6 and 47.5 dB HL in the right and left ears, respectively. Hearing was within normal limits for o...
Alström syndrome (OMIM#203800) is an ultra-rare autosomal recessive monogenic disease presenting pat...
Summary: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times wit...
Item does not contain fulltextOBJECTIVE: To assess the audiometric profile and speech recognition ch...
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene...
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characteri...
Alström\u27s syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in th...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alström syndrome (MIM 203800) is a rare autosomal recessively inherited disorder with a prevalence o...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typicall...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
SummaryAlport Syndrome is a genetic disorder characterized by hematuria, which often leads to renal ...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
5noHearing loss, both in its syndromic and non-syndromic forms, is the most common sensory disorder,...
Alström syndrome (OMIM#203800) is an ultra-rare autosomal recessive monogenic disease presenting pat...
Summary: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times wit...
Item does not contain fulltextOBJECTIVE: To assess the audiometric profile and speech recognition ch...
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene...
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characteri...
Alström\u27s syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in th...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alström syndrome (MIM 203800) is a rare autosomal recessively inherited disorder with a prevalence o...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typicall...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
SummaryAlport Syndrome is a genetic disorder characterized by hematuria, which often leads to renal ...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
5noHearing loss, both in its syndromic and non-syndromic forms, is the most common sensory disorder,...
Alström syndrome (OMIM#203800) is an ultra-rare autosomal recessive monogenic disease presenting pat...
Summary: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times wit...
Item does not contain fulltextOBJECTIVE: To assess the audiometric profile and speech recognition ch...