Large contiguous gene deletions in Sjögren–Larsson syndrome
نویسندگان
چکیده
منابع مشابه
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing ...
متن کاملONLINE MUTATION REPORT Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by hamartomatous growth abnormalities in many organs. Epilepsy and mental retardation, typical skin manifestations, intracerebral hamartoma, renal angiomyolipoma, and pulmonary lymphangioleiomyomatosis are among the major diagnostic features of TSC. TSC is thought to affect approximately 1 in every 6000 newborns. It has an aut...
متن کاملTiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملContiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the dista...
متن کاملLarge deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by hamartomatous growth abnormalities in many organs. Epilepsy and mental retardation, typical skin manifestations, intracerebral hamartoma, renal angiomyolipoma, and pulmonary lymphangioleiomyomatosis are among the major diagnostic features of TSC. TSC is thought to affect approximately 1 in every 6000 newborns. It has an aut...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2011
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.05.015