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Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype

โœ Scribed by Ekkehard Wilichowski; Andreas Ohlenbusch; G. Christoph Korenke; Donald H. Hunneman; Folker Hanefeld


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
207 KB
Volume
43
Category
Article
ISSN
0364-5134

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โœ Yamagishi, Hiroyuki; Ishii, Chihiro; Maeda, Jun; Kojima, Yoshifumi; Matsuoka, Ru ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 3 views

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