Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in 5 individuals. We obtained data on 182 patients from clinical examinations, medical record reviews, standardized questionnaires, and personal interviews with physicians and parents. Dilated cardiomyopathy occurred in 60% of patients. Age at onset was either during infancy, often before vision disturbances were noted, or in adolescence or adulth...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus,...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
BACKGROUND: Alstr\uf6m syndrome is a recessively inherited genetic disorder characterized by congeni...
BACKGROUND: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2...
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, card...
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, ...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Compl...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alstr\uf6m syndrome is a monogenic recessive disorder featuring an array of clinical manifestations,...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus,...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
BACKGROUND: Alstr\uf6m syndrome is a recessively inherited genetic disorder characterized by congeni...
BACKGROUND: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital...
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dys...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2...
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, card...
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, ...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Compl...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alstr\uf6m syndrome is a monogenic recessive disorder featuring an array of clinical manifestations,...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus,...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...