OR03-4 VISUALISING GROWTH HORMONE (GH) INSENSITIVITY IN TISSUE SECTIONS

Autor: Gevers, Evelien F, Robinson, Iain CAF

Publikováno v: In Growth Hormone & IGF Research 2006 16 Supplement B:S6-S6

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.

Autor: Whittaker DE; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; Department of Comparative Biomedical Sciences, Royal Veterinary College, London, United Kingdom., Oleari R; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Gregory LC; 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., 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., Torpiano JG; Department of Paediatrics and.; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta., Formosa N; Department of Paediatrics and., Cachia MJ; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta., Field D; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom., Lettieri A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Ocaka LA; 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., Paganoni AJ; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Rajabali SH; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom., Riegman KL; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom., De Martini LB; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Chaya T; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan., Robinson IC; The Francis Crick Institute, London, United Kingdom., Furukawa T; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan., Cariboni A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Basson MA; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom., Dattani MT; 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.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2021 Dec 15; Vol. 131 (24).