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Definition of the neurological phenotype associated with dup (X)(p11.22–p11.23)

✍ Scribed by Marcella Broli; Francesca Bisulli; Massimo Mastrangelo; Elena Fontana; Isabella Fiocchi; Claudio Zucca; Maria Clara Bonaglia; Serafino Buono; Sebastiano Antonino Musumeci; Corrado Romano; Santina Reitano; Maria Savio; Girolamo Aurelio Vitello; Bruno Bernardi; Daniela Cevolani; Raffaele Agati; Roberto Poda; Roberto Gallassi; Roberto Giorda; Orsetta Zuffardi; Bernardo Dalla Bernardina; Marco Seri; Paolo Tinuper


Book ID
115051618
Publisher
John Libbey Eurotext
Year
2011
Tongue
English
Weight
788 KB
Volume
13
Category
Article
ISSN
1294-9361

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## Abstract We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The __PTHLH__ gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated w