Phenotypic heterogeneity in females with X-linked Alport syndrome

Aims: X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes,...

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Detalles Bibliográficos
Autores principales: Allred, Samuel C., Weck, Karen E., Gasim, Adil, Mottl, Amy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928029/
https://www.ncbi.nlm.nih.gov/pubmed/26249550
http://dx.doi.org/10.5414/CN108561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928029/
https://www.ncbi.nlm.nih.gov/pubmed/26249550
http://dx.doi.org/10.5414/CN108561

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