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Pregnancy following successful preimplantation genetic diagnosis for alagille syndrome

✍ Scribed by Kangpu Xu; Steve Spandorfer; Hongmei Yuan; Lucinda Veeck; Zev Rosenwaks


Book ID
119419502
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
17 KB
Volume
78
Category
Article
ISSN
1556-5653

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Lesch-Nyhan syndrome (LN) is a severe X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine phosphoribosyl transferase (HPRT). Clinical features displayed by affected boys are particularly severe and disturbing and include hyperuricaemia, characteristic neurological features