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pro vyhledávání: '"Theo C.J. Sas"'
Autor:
Alicia F. Juriaans, Demi J. Trueba-Timmermans, Gerthe F. Kerkhof, Lionne N. Grootjen, Sylvia Walet, Theo C.J. Sas, Joost Rotteveel, Nitash Zwaveling-Soonawala, Annemarie A. Verrijn Stuart, Anita C.S. Hokken-Koelega
Publikováno v:
Hormone Research in Paediatrics.
Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32.2 or an isolated methylation defect. Most patients with TS14 develop precocious puberty