Phenotypic heterogeneity in females with X-linked Alport syndrome.

CONCLUSIONS: The current case report demonstrates the importance of considering skewed X-inactivation in females who exhibit signs or symptoms of Xlinked disorders.
PMID: 26249550 [PubMed - as supplied by publisher]

Source: Clinical Nephrology - August 7, 2015 Category: Urology & Nephrology Authors: Allred SC, Weck KE, Gasim A, Mottl AK Tags: Clin Nephrol Source Type: research