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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas, Rebecca A; Kutateladze, Anna A; Plummer, Lacey; Stamou, Maria; Keefe, David L; Salnikov, Kathryn B; Delaney, Angela; Hall, Janet E; Sadreyev, Ruslan; Ji, Fei; Fliers, Eric; Gambosova, Katarina; Quinton, Richard; Merino, Paulina M; Mericq, Veronica; Seminara, Stephanie B; Crowley, William F; Balasubramanian, Ravikumar.
Afiliação
  • Rojas RA; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Kutateladze AA; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Plummer L; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Stamou M; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Keefe DL; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Salnikov KB; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Delaney A; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
  • Hall JE; National Institute of Environmental Health Sciences, Research Triangle, NC.
  • Sadreyev R; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA.
  • Ji F; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA.
  • Fliers E; Amsterdam University Medical Center, location AMC, Department of Endocrinology and Metabolism, Amsterdam, The Netherlands.
  • Gambosova K; Stormont-Vail Health, Cotton O'Neil Diabetes and Endocrinology, Topeka, KS.
  • Quinton R; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-tyne, UK.
  • Merino PM; Institute of Maternal and Child Research, University of Chile, Santiago, Chile.
  • Mericq V; Institute of Maternal and Child Research, University of Chile, Santiago, Chile.
  • Seminara SB; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Crowley WF; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Balasubramanian R; Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA.
Genet Med ; 25(6): 100855, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37272927
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article