Concepedia

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert‐Dussardier, Alice Goldenberg, Alex Henderson, Bertrand Isidor, Hülya Kayserili,

European Journal of Human Genetics · 2018 · 27 citations · 26 references

DOIFull text

Open access

Concepts

References

26

Genetically lean mice result from targeted disruption of the RIIβ subunit of protein kinase A

David E. Cummings, Eugene P. Brandon, Josep V. Planas et al. · Nature · 1996 · 411 citations

, , +8

Recurrent <i>PRKAR1A</i> Mutation in Acrodysostosis with Hormone Resistance

Agnès Linglart, Alain Couvineau, Colette Auzan et al. · New England Journal of Medicine · 2011 · 178 citations · Full text

, , +14

Global Survey of Genomic Imprinting by Transcriptome Sequencing

Tomas Babak, Brian DeVeale, Christopher D. Armour et al. · Current Biology · 2008 · 166 citations · Full text

, , +12

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Hane Lee, John M. Graham, David L. Rimoin et al. · The American Journal of Human Genetics · 2012 · 137 citations · Full text

, , +11

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Caroline Michot, Carine Le Goff, Alice Goldenberg et al. · The American Journal of Human Genetics · 2012 · 127 citations · Full text

, , +10