Add to ORKGAlstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. The gene for Alstrom syndrome (ALMS1) has been previously localized to human chromosome 2p13 by homozygosity mapping in two distinct isolated populations - French Acadian and North African. Pair-wise analyses resulted in maximum lod (logarithm of the odds ratio) scores of 3.84 and 2.9, respectively. To confirm these findings, a large linkage study was performed in twelve additional families segregating for Alstrom syndrome. A maximum two-point lod score of 7.13 (theta = 0.00) for marker D2S2110 and a maximum cumulative multipoint lod score of 9.1...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal ...
Alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
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 ...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, ...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
WOS: 000348684000001PubMed ID: 25296579Alstrom syndrome (ALMS) is an autosomal recessive disease cha...
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutatio...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal ...
Alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degenera...
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 ...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, ...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of...
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, wi...
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvemen...
WOS: 000348684000001PubMed ID: 25296579Alstrom syndrome (ALMS) is an autosomal recessive disease cha...
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutatio...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of senso...
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal ...