Add to ORKGAlstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing loss, childhood obesity, non-insulin-dependent diabetes mellitus, hyperlipidemia and chronic nephropathy. Features occasionally observed include acanthosis nigricans, hypogonadism, hypothyroidism, alopecia, short stature and cardiomyopathy. We report here the results of a linkage study in a large French Acadian kindred, as a first step in identifying the molecular basis of Alstrom syndrome. Evidence of a founder effect made if feasible to use a homozygosity mapping strategy to identify the chromosomal location of the Alstrom gene. In a genome-wide screen, haplotype sharing for a region on chromosome 2 was ...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inabil...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, senso...
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of...
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...
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutatio...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inabil...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, senso...
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of...
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...
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutatio...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inabil...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...