Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]

Loredana Boccone; Valentina Dessì; Gigliola Serra; Federica Zibordi; Georgios Loudianos

doi:10.1002/ajmg.a.32086

Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]

Loredana Boccone, Valentina Dessì, Gigliola Serra, Federica Zibordi, Georgios Loudianos

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	257-260
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.32086
Publication status	Published - Jan 15 2008

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.a.32086

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Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]. / Boccone, Loredana; Dessì, Valentina; Serra, Gigliola; Zibordi, Federica; Loudianos, Georgios.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 2, 15.01.2008, p. 257-260.

Research output: Contribution to journal › Article › peer-review

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Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]

ASJC Scopus subject areas

Access to Document

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