Your browser doesn't support javascript.
loading
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
Hoppmann, Julia; Gesing, Julia; Silve, Caroline; Leroy, Chrystel; Bertsche, Astrid; Hirsch, Franz Wolfgang; Kiess, Wieland; Pfäffle, Roland; Schuster, Volker.
Affiliation
  • Hoppmann J; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
  • Gesing J; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
  • Silve C; Université Paris-Sud Faculté de Médecine, INSERM U1169, Département de Génétique et de Biologie Moléculaire, Le Kremlin Bicêtre, France.
  • Leroy C; Centre de Référence des Maladies Rares du Métabolisme phosphocalcique, Filiere Maladies Rares OSCAR, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Service de Génétique et Biologie Moléculaires, Paris, France.
  • Bertsche A; Centre de Référence des Maladies Rares du Métabolisme phosphocalcique, Filiere Maladies Rares OSCAR, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Service de Génétique et Biologie Moléculaires, Paris, France.
  • Hirsch FW; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
  • Kiess W; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
  • Pfäffle R; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
  • Schuster V; University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany.
J Clin Res Pediatr Endocrinol ; 9(4): 360-365, 2017 12 15.
Article in En | MEDLINE | ID: mdl-28515031
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Mutation, Missense / Dysostoses / Cyclic Nucleotide Phosphodiesterases, Type 4 / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Res Pediatr Endocrinol Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Turquía
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Mutation, Missense / Dysostoses / Cyclic Nucleotide Phosphodiesterases, Type 4 / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Res Pediatr Endocrinol Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Turquía