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

Acrodysostosis (MIM 101800) is a dominantly inherited condition associating (1) skeletal features (short stature, facial dysostosis, and brachydactyly with cone-shaped epiphyses), (2) resistance to hormones and (3) possible intellectual disability. Acroscyphodysplasia (MIM 250215) is characterized b...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M.A., Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2018
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189044/
https://ncbi.nlm.nih.gov/pubmed/30006632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0135-1
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