๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation

โœ Scribed by M. Liguori; A. La Russa; I. Manna; V. Andreoli; M. Caracciolo; P. Spadafora; R. Cittadella; A. Quattrone


Publisher
Springer
Year
2008
Tongue
English
Weight
211 KB
Volume
255
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A review of the phenotypic variation due
โœ Rosemary W. Heathcott; Ian M. Morison; Marie Claire Gubler; Robin Corbett; Antho ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 189 KB

The gene WT1 is required for the normal development and function of the urogenital tract. Constitutional mutations are associated with familial Wilms tumor and syndromes such as Denys-Drash syndrome (DDS) characterized by nephropathy, genital anomalies and often a predisposition to Wilms tumor. We r