Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

<p>Abstract</p> <p>Background</p> <p>Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clini...

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Bibliographic Details
Main Authors: Ferreira Susana, Matoso Eunice, Venâncio Margarida, Saraiva Jorge, Melo Joana B, Carreira Isabel
Format: Article
Language:English
Published: BMC 2012-05-01
Series:Molecular Cytogenetics
Subjects:
2q31.2q32.3 deletion
Critical region
Alagille syndrome
Online Access:http://www.molecularcytogenetics.org/content/5/1/25

Internet

http://www.molecularcytogenetics.org/content/5/1/25

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