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Phenotypic characterization of hypomyelination and congenital cataract

✍ Scribed by Roberta Biancheri; Federico Zara; Claudio Bruno; Andrea Rossi; Laura Bordo; Elisabetta Gazzerro; Federica Sotgia; Marina Pedemonte; Sara Scapolan; Massimo Bado; Graziella Uziel; Marianna Bugiani; Laura Doria Lamba; Valeria Costa; Angelo Schenone; Annemieke J. M. Rozemuller; Paolo Tortori-Donati; Michael P. Lisanti; Marjo S. van der Knaap; Carlo Minetti


Book ID
101465573
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
284 KB
Volume
62
Category
Article
ISSN
0364-5134

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Prenatal ultrasound detection of congeni
✍ Muriel Romain; JoΓ«lle Awoust; Christian Dugauquier; Lionel Van Maldergem πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 163 KB

A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first