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Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava, Siddharth; Niranjan, Tejasvi; May, Melanie M; Tarpey, Patrick; Allen, William; Hackett, Anna; Jouk, Pierre-Simon; Raymond, Lucy; Briault, Slyvain; Skinner, Cindy; Toutain, Annick; Gecz, Jozef; Heath, William; Stevenson, Roger E; Schwartz, Charles E; Wang, Tao.
Afiliação
  • Srivastava S; Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.
  • Niranjan T; Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.
  • May MM; Greenwood Genetic Center, Greenwood, South Carolina.
  • Tarpey P; Welcome Trust Sanger Institute, Cambridge, UK.
  • Allen W; Fullerton Genetics, Asheville, North Carolina.
  • Hackett A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
  • Jouk PS; Service de Génétique Clinique, Hôpital Couple-Enfant, Grenoble, France.
  • Raymond L; Cambridge Institute of Medical Research, Cambridge, UK.
  • Briault S; Centre Hospitalier Régional d'Orléans, Orléans, France.
  • Skinner C; Greenwood Genetic Center, Greenwood, South Carolina.
  • Toutain A; Service de Génétique Clinique, Hôpital Bretonneau, Tours, France.
  • Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.
  • Heath W; J.I. Riddle Developmental Center, Morganton, North Carolina.
  • Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina.
  • Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina.
  • Wang T; Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.
Mol Genet Genomic Med ; 7(4): e00569, 2019 04.
Article em En | MEDLINE | ID: mdl-30729724

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Deficiência Intelectual Ligada ao Cromossomo X / Complexo Mediador Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Deficiência Intelectual Ligada ao Cromossomo X / Complexo Mediador Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2019 Tipo de documento: Article