๐”– Bobbio Scriptorium
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Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)

โœ Scribed by Dr. Meena Upadhyaya; Dr. Julie Maynard; Dr. Mike Osborn; Dr. Phil Jardine; Dr. P. S. Harper; Dr. P. Lunt


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
501 KB
Volume
18
Category
Article
ISSN
0148-639X

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๐Ÿ“œ SIMILAR VOLUMES


Prenatal diagnosis for facioscapulohumer
โœ Meena Upadhyaya; Moira MacDonald; David Ravine ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 202 KB

This study outlines the molecular DNA findings derived from 12 separate prenatal diagnoses offered to families with a history of facioscapulohumeral muscular dystrophy. A high risk of the fetus being affected was identified in five pregnancies. Several practical problems are discussed, particularly

Facioscapulohumeral muscular dystrophy i
โœ Dr. G. W. Padberg; Dr. R. R. Frants; O. F. Brouwer; C. Wijmenga; E. Bakker; L. A ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 404 KB

Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germ