Article
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2014
Wang Yanyan, Sivakumar Vanessa, Mohammad Mardhiah, Colville Deb, Storey Helen, Flinter Frances, Dagher Hayat, Savige Judy
Abstract excerpt
BACKGROUND: This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome. METHODS: All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre. RESULTS: Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.