CareLit · DOI-Nachweis · Klinische Pädiatrie
Alström syndrome: an example for efficient genetic testing in cilia-related disorders (ciliopathies)
DOI 10.1055/s-0031-1273819
Bibliografische Angaben
Nachweis in CareLit
Autor:innenV Frank, D Horn, L Bayer, H Bolz, HG Kehl, C Bergmann
ZeitschriftKlinische Pädiatrie
Ausgabe03/2011
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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 diffe…
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Zitierempfehlung
V Frank, D Horn, L Bayer, H Bolz, HG Kehl, C Bergmann (2011) Alström syndrome: an example for efficient genetic testing in cilia-related disorders (ciliopathies). Klinische Pädiatrie (03). https://doi.org/10.1055/s-0031-1273819
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