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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

โœ Scribed by Brian H.Y. Chung; Irene Drmic; Christian R. Marshall; Daria Grafodatskaya; Melissa Carter; Bridget A. Fernandez; Rosanna Weksberg; Wendy Roberts; Stephen W. Scherer


Book ID
116433404
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
443 KB
Volume
54
Category
Article
ISSN
1769-7212

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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