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TITLE: Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM) Full Text
AUTHORS: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; John Christodoulou; Philippe Touraine; Andrew H Sinclair; ...More
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10

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TITLE: Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum Full Text
AUTHORS: Sandra Whalen; Delphine Heron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Franc Oise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; Martine Le Merrer; Marlene Rio; Dragana Josifova; Johanna Maria Van Hagen; Didier Lacombe; Patrick Edery; Sophie Dupuis Girod; Audrey Putoux; Damien Sanlaville; Richard Fischer; Loic Drevillon; Audrey Briand Suleau; Corinne Metay; Michel Goossens; Jeanne Amiel; Aurelia Jacquette; Irina Giurgea; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1

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