Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Autor:	Garcia‐Tizon Larroca, Santiago, Blagoeva Atanasova, Vangeliya, Orera Clemente, Maria, Aluja Mendez, Anna, Ortega Abad, Virginia, Perez Fernandez‐Pacheco, Ricardo, De León Luis, Juan, Gamez Alderete, Francisco
Předmět:	LAURENCE-Moon-Biedl syndrome PRENATAL diagnosis NUCLEOTIDE sequencing CILIOPATHY POLYDACTYLY DIAGNOSIS
Zdroj:	Clinical Case Reports; Apr2017, Vol. 5 Issue 4, p449-453, 5p
Abstrakt:	Key Clinical Message Bardet-Biedl syndrome ( BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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