Add to ORKGs part of a clinical study of Alström syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone rod dystrophy progressed and all were registered blind by the end of the first decade. By the middle of the first decade a characteristic appearance of sunken eyes and a prominent supra-orbital ridge had developed (fig 1A). Truncal obesity became apparent in the first few years of life and all exhibited acanthosis nigricans in their teenage years. None has yet developed symptomatic diabetes. ...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typicall...
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus,...
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
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...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, card...
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal ...
BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Compl...
Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, w...
BACKGROUND: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typicall...
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus,...
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene...
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dila...
BACKGROUND AND OBJECTIVE: Alstrom syndrome is a progressive autosomal recessive genetic disorder aff...
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...
ited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing...
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, card...
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal ...
BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Compl...
Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, w...
BACKGROUND: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital...
Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan ...
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy,...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typicall...