𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Monozygotic turner syndrome twins—correlation of phenotype severity and heart defect

✍ Scribed by Lin, Angela E. ;Garver, Kenneth L. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
197 KB
Volume
29
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype-phenotype correlation in two se
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome
✍ Castorina, Pierangela; Selicorni, Angelo; Bedeschi, Francesca; Dalprà, Leda; Lar 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 263 KB 👁 2 views

We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WSspeci

Delineation of the common critical regio
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin
✍ Wu, Yuan-Qing; Sutton, V. Reid; Nickerson, Elizabeth; Lupski, James R.; Potocki, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other gene