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Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to overexpression of the MECP2 gene

✍ Scribed by J.P. Vieira; A. Silva-Fernandes; S. Moura; P. Maciel


Book ID
116552258
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
80 KB
Volume
28
Category
Article
ISSN
0736-5748

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✍ Kenji Naritomi; Yoshinori Izumikawa; Satoshi Ohshiro; Kaoru Yoshida; Nobuyuki Sh πŸ“‚ Article πŸ“… 1989 πŸ› Springer 🌐 English βš– 250 KB

The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger sy