Alstrom syndrome--an uncommon cause of early childhood retinal dystrophy.
Ontology highlight
ABSTRACT:
SUBMITTER: Sheck L
PROVIDER: S-EPMC3171033 | biostudies-other | 2011
REPOSITORIES: biostudies-other
Publications
Alström syndrome--an uncommon cause of early childhood retinal dystrophy.
Sheck Leo L Al-Taie Rasha R Sharp Dianne D Vincent Andrea A
BMJ case reports 20110817
Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation. ...[more]
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