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Monozygotic twins with LRRK2 mutations: Genetically identical but phenotypically discordant

✍ Scribed by Susanne A. Schneider; Michael R. Johnson

Book ID
115559982
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
65 KB
Volume
27
Category
Article
ISSN
0885-3185

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We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardat