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

doi:10.1038/s41431-018-0135-1

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Article

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

European journal of human genetics : EJHG - 1 Nov 2018

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

Abstract excerpt

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 by growth retardation, brachydactyly, and knee epiphyses embedded in cup-shaped metaphyses. We and others have...

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Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit

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PMID: 30006632
DOI: 10.1038/s41431-018-0135-1
PMCID: PMC6189044

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.PMID 30006632Read ↗

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