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Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.
Gadzicki, D; Döcker, D; Schubach, M; Menzel, M; Schmorl, B; Stellmer, F; Biskup, S; Bartholdi, D.
Affiliation
  • Gadzicki D; MVZ Endokrinologikum Hannover, Hannover, Germany.
  • Döcker D; Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
  • Schubach M; CeGaT GmbH, Tübingen, Germany.
  • Menzel M; CeGaT GmbH, Tübingen, Germany.
  • Schmorl B; MVZ Endokrinologikum Hannover, Hannover, Germany.
  • Stellmer F; MVZ genteQ, Hamburg, Germany.
  • Biskup S; Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
  • Bartholdi D; CeGaT GmbH, Tübingen, Germany.
Clin Genet ; 88(3): 300-2, 2015 Sep.
Article in En | MEDLINE | ID: mdl-25522177
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Vesicular Transport Proteins / Intellectual Disability Limits: Adult / Child, preschool / Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Alemania Country of publication: Dinamarca
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Vesicular Transport Proteins / Intellectual Disability Limits: Adult / Child, preschool / Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Alemania Country of publication: Dinamarca