نتایج جستجو برای: larsson syndrome
تعداد نتایج: 622429 فیلتر نتایج به سال:
We investigate the symmetric and anti-symmetric spin-orbit forces (SLS and ALS) of the effective ΛN interaction derived from a quark cluster model with the instantoninduced interaction (I I I), which can reproduce the observed YN cross sections as well as the observed NN scattering data. It is found that coupling to the ΣN channel enhances ΛN ALS, and therefore that the cancellation between SLS...
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...
The Prader-Labhart-Willi syndrome is characterized by perinatal muscular hypotonia, short stature, mental retardation, hypogonadism (cryptorchidism in males), and severe, progressive obesity. Another feature of this syndrome is the development of glucose intolerance, followed by overt juvenile diabetes mellitus of the maturity onset type (Illig, Ischymi, and Vischer, 1974). Esotropia and amblyo...
Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been co...
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