Different mutations inPDE4Dassociated with developmental disorders with mirror phenotypes-Reference-Cited by-同舟云学术

Different mutations inPDE4Dassociated with developmental disorders with mirror phenotypes

Published:2013-11-07 Issue:1 Volume:51 Page:45-54
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Lindstrand Anna,Grigelioniene Giedre,Nilsson Daniel,Pettersson Maria,Hofmeister Wolfgang,Anderlid Britt-Marie,Kant Sarina G.,Ruivenkamp Claudia A L,Gustavsson Peter,Valta Helena,Geiberger Stefan,Topa Alexandra,Lagerstedt-Robinson Kristina,Taylan Fulya,Wincent Josephine,Laurell Tobias,Pekkinen Minna,Nordenskjöld Magnus,Mäkitie Outi,Nordgren Ann

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference27 articles.

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2. Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling;Conti;Annu Rev Biochem,2007

3. Exome sequencing identifies PDE4D mutations in acrodysostosis;Lee;Am J Hum Genet,2012

4. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance;Linglart;J Clin Endocrinol Metab,2012

5. Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis;Lynch;Hum Mutat,2013

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