Alstrom syndrome

Developmental and genetic diseases

2p13 GeneReviews Google OMIM Orphanet PubMed Who named it? Wikipedia

Alstrom syndrome

*Gene map locus 2p13

ALMS

ALSS

[Clinical features: retinitis pigmentosa; deafness; obesity; diabetes mellitus]

[Inheritance: autosomal recessive]


Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome	Exudative retinopathy in a girl with Alstrom syndrome due to a novel mutation	The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
Archives of Ophthalmology	British Journal of Ophthalmology	Journal of Medical Genetics


Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness - Retinitis pigmentosa	Cardiac magnetic resonance imaging in Alström syndrome	Cardiac magnetic resonance imaging in Alström syndrome
Nephrology Dialysis Transplantation	Orphanet Journal of Rare Diseases	Orphanet Journal of Rare Diseases


Cardiac magnetic resonance imaging in Alström syndrome	Cardiac magnetic resonance imaging in Alström syndrome
Orphanet Journal of Rare Diseases	Orphanet Journal of Rare Diseases

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Edited by Aldo Campana, February 8, 2010