Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from
Locus heterogeneity of Dent’s disease:OCRL1andTMEM27genes in patients with noCLCN5mutations
✍ Scribed by Enrica Tosetto; Maria Addis; Gianluca Caridi; Cristiana Meloni; Francesco Emma; Gianluca Vergine; Gilda Stringini; Teresa Papalia; Giancarlo Barbano; Gian Marco Ghiggeri; Laura Ruggeri; Nunzia Miglietti; Angela D′Angelo; Maria Antonietta Melis; Franca Anglani
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 133 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0931-041X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by growth of benign bone tumors. Three chromosomal loci have been implicated in this genetically heterogeneous disease: EXT1 at 8q24, EXT2 at 11p13, and EXT3 on 19p. EXT1 and EXT2 were recently cloned. We evaluated 3
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diagnostic of Sotos syndrome on 116 patients. Using di