Splenic lobulations in Bardet-Biedl syndrome: a first case report

Autor: H, Doneray, Z, Orbak
Rok vydání: 2006
Předmět:
Zdroj: Genetic counseling (Geneva, Switzerland). 17(3)
ISSN: 1015-8146
Popis: Bardet-Biedl Syndrome (BBS) is a rare genetic disorder. It is considered to develop as a result of ciliary dysfunction. There are some clues about splenic expression of ciliary dysfunction. Therefore, splenic anomalies may be expected in BBS. We, here, describe a first case of BBS associated with splenic lobulations.
Databáze: OpenAIRE