Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a singleFLNAmutation with combined gain-of-function and loss-of-function effects-Reference-Cited by-同舟云学术

Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a singleFLNAmutation with combined gain-of-function and loss-of-function effects

Published:2015-03-09 Issue:6 Volume:52 Page:405-412
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Parrini Elena,Mei Davide,Pisanti Maria Antonietta,Catarzi Serena,Pucatti Daniela,Bianchini Claudia,Mascalchi Mario,Bertini Enrico,Morrone Amelia,Cavaliere Maria Luigia,Guerrini Renzo

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference31 articles.

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4. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations;Parrini;Brain,2006

5. Combined cardiological and neurological abnormalities due to filamin A gene mutation;de Wit;Clin Res Cardiol,2011

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