CareLit Fachartikel
Alström syndrome: an example for efficient genetic testing in cilia-related disorders (ciliopathies)
V Frank, D Horn, L Bayer, H Bolz, HG Kehl, C Bergmann · Klinische Pädiatrie · 2011 · Heft 03
Dokument
1170084
CareLit-ID
Jahr
2011
Publikation
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Zusammenfassung
Ciliary dysfunction has been shown to underlie a broad range of clinically and genetically heterogeneous phenotypes, the so-called ciliopathies. Literally all organs can be affected, frequent cilia-related manifestations are cystic kidney disease, retinal degeneration, deafness, skeletal disorders, and brain malformations, occurring either isolated or as part of syndromes. While there are some overlaps between different ciliopathies, genotype-phenotype correlations allow for time- and cost-efficient targeted testing approaches. We demonstrate this in two patients with Alström syndrome in whom we were able to ide…
Schlagworte
Cilia
ciliopathies
Alström syndrome
ALMS1
Bardet-Biedl syndrome (BBS)
Bardet-Biedl Syndrome
Diabetes Mellitus
Diagnosis
Obesity
Klinische Pädiatrie
