Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

doi:10.1136/jmedgenet-2013-101937

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Article

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Journal of medical genetics - 1 Jan 2014

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

Abstract excerpt

BACKGROUND: Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia and intellectual disability. The purpose of the present study was to investigate clinical and cellular implications of different types of mutations in the PDE4D gene. METHODS: We studied five acrodysostosis patients and three patients...

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Identifiers

PMID: 24203977
DOI: 10.1136/jmedgenet-2013-101937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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