Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Werner F Blum, Jürgen Klammt, Serge Amselem, Heike M Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J Child, Christine Jones, Alan G Zimmermann, Charmian A Quigley, Gordon B Cutler, Cheri L Deal, Jan Lebl, Ron G Rosenfeld, John S Parks, Roland W Pfäffle

Journal: EBioMedicine 2019;36():390-400

PMID: 30266296

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Abstract

Address: University Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany; Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstrasse 12, 35392 Giessen, Germany. Electronic address: [email protected].; University Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany.; Sorbonne Université, Inserm UMR_S933, Département de Génétique, Hôpital Trousseau, AP-HP, 75012 Paris, France.; Eli Lilly and Company, Windlesham, GU20 6PH, UK.; Eli Lilly and Company, Werner-Reimers-Strasse 2-4, 61352 Bad Homburg, Germany.; Eli Lilly and Company, Indianapolis, USA.; Sydney Children's Hospital, Randwick, Australia.; Gordon Cutler Consultancy LLC, Deltaville, USA.; University of Montreal and CHU Ste-Justine, Montreal, Canada.; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, University Hospital Motol, V Uvalu 84, 150 06 Prague, 5, Czech Republic.; Department of Pediatrics, Oregon Health and Science University, Portland, USA.; Division of Pediatric Endocrinology and Diabetes, Emory University School of Medicine, 2015 Uppergate Dr, Atlanta, GA 30322, USA.

DOI: 10.1016/j.ebiom.2018.09.026

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MeSH Terms: Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Dwarfism, Pituitary, Female, Homeodomain Proteins, Human Growth Hormone, Humans, LIM-Homeodomain Proteins, Male, Mutation, Nuclear Proteins, Phenotype, Pituitary Gland, Prospective Studies, Receptors, Neuropeptide, Receptors, Pituitary Hormone-Regulating Hormone, SOXB1 Transcription Factors, Transcription Factor Pit-1, Transcription Factors, Young Adult, Zinc Finger Protein Gli2