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Items: 4

Select item 61890441.

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, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Pelin Ozlem Simsek-Kiper, Chloé Quelin, Ravi Savarirayan, Marleen Simon, Miranda Splitt, Judith M.A. Verhagen, Alain Verloes, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

Eur J Hum Genet. 2018 Nov; 26(11): 1611–1622. Published online 2018 Jul 13. doi: 10.1038/s41431-018-0135-1

PMCID:: PMC6189044

Abstract Article PDF–1.1M

Select item 38829132.

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Guilherme L. Yamamoto, Wagner A.R. Baratela, Tatiana F. Almeida, Monize Lazar, Clara L. Afonso, Maria K. Oyamada, Lisa Suzuki, Luiz A.N. Oliveira, Ester S. Ramos, Chong A. Kim, Maria Rita Passos-Bueno, Débora R. Bertola

Am J Hum Genet. 2014 Jan 2; 94(1): 113–119. doi: 10.1016/j.ajhg.2013.11.022