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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Bando, Hironori; Brinkmeier, Michelle L; Castinetti, Frederic; Fang, Qing; Lee, Mi-Sun; Saveanu, Alexandru; Albarel, Frédérique; Dupuis, Clémentine; Brue, Thierry; Camper, Sally A.
Afiliación
  • Bando H; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Brinkmeier ML; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Castinetti F; Assistance Publique-Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l'hypophyse HYPO, Marseille, France.
  • Fang Q; Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille, Maladies Rares (MarMaRa), Marseille, France.
  • Lee MS; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Saveanu A; Michigan Neuroscience Institute, Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
  • Albarel F; Assistance Publique-Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l'hypophyse HYPO, Marseille, France.
  • Dupuis C; Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille, Maladies Rares (MarMaRa), Marseille, France.
  • Brue T; Assistance Publique-Hôpitaux de Marseille (AP-HM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l'hypophyse HYPO, Marseille, France.
  • Camper SA; Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille, Maladies Rares (MarMaRa), Marseille, France.
Hum Mol Genet ; 32(3): 367-385, 2023 01 13.
Article en En | MEDLINE | ID: mdl-35951005
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Holoprosencefalia / Hipopituitarismo Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Holoprosencefalia / Hipopituitarismo Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos