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A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker, Danielle E; Oleari, Roberto; Gregory, Louise C; Le Quesne-Stabej, Polona; Williams, Hywel J; Torpiano, John G; Formosa, Nancy; Cachia, Mario J; Field, Daniel; Lettieri, Antonella; Ocaka, Louise A; Paganoni, Alyssa Jj; Rajabali, Sakina H; Riegman, Kimberley Lh; De Martini, Lisa B; Chaya, Taro; Robinson, Iain Caf; Furukawa, Takahisa; Cariboni, Anna; Basson, M Albert; Dattani, Mehul T.
Afiliação
  • Whittaker DE; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.
  • Oleari R; Department of Comparative Biomedical Sciences, Royal Veterinary College, London, United Kingdom.
  • Gregory LC; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Le Quesne-Stabej P; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Williams HJ; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Formosa N; Department of Paediatrics and.
  • Cachia MJ; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta.
  • Field D; Department of Paediatrics and.
  • Lettieri A; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta.
  • Ocaka LA; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.
  • Paganoni AJ; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Rajabali SH; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Riegman KL; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • De Martini LB; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.
  • Chaya T; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.
  • Robinson IC; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Furukawa T; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan.
  • Cariboni A; The Francis Crick Institute, London, United Kingdom.
  • Basson MA; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan.
  • Dattani MT; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
J Clin Invest ; 131(24)2021 12 15.
Article em En | MEDLINE | ID: mdl-34730112
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cerebelo / Histona-Lisina N-Metiltransferase / Hipogonadismo / Hipotálamo / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cerebelo / Histona-Lisina N-Metiltransferase / Hipogonadismo / Hipotálamo / Mutação / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido