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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot, Caroline; Le Goff, Carine; Goldenberg, Alice; Abhyankar, Avinash; Klein, Céline; Kinning, Esther; Guerrot, Anne-Marie; Flahaut, Philippe; Duncombe, Alice; Baujat, Genevieve; Lyonnet, Stanislas; Thalassinos, Caroline; Nitschke, Patrick; Casanova, Jean-Laurent; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie.
Affiliation
  • Michot C; INSERM U781, Département de Génétique, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.
Am J Hum Genet ; 90(4): 740-5, 2012 Apr 06.
Article in En | MEDLINE | ID: mdl-22464250
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Sequence Analysis, DNA / Dysostoses / Cyclic Nucleotide Phosphodiesterases, Type 3 / Exome / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2012 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Sequence Analysis, DNA / Dysostoses / Cyclic Nucleotide Phosphodiesterases, Type 3 / Exome / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2012 Document type: Article