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Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter

✍ Scribed by Dr D. Towner; S. P. Yang; L. G. Shaffer


Book ID
114434934
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
61 KB
Volume
18
Category
Article
ISSN
0960-7692

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Prenatal Ultrasound Findings in a Fetus
✍ Shelley Rowlands; Henry Murray πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 113 KB

A 26-year-old woman with no significant history was found to have a fetus with hepatosplenomegaly and neurological abnormalities in utero on ultrasound. The baby was found to have a severe clinical manifestation of type 2 Gaucher's disease.