نتایج جستجو برای: autosomal recessive non syndromic hearing loss
تعداد نتایج: 1782138 فیلتر نتایج به سال:
Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the genetic cause of ID in one syndromic and two non-syndromic Pakistani families. Whole exome of three ID probands was sequenced. Missense variations ...
the incidence of pre-lingual hearing loss (hl) is about 1 in 1000 neonates. more than 60% of cases are inherited. non-syndromic hl (nshl) is extremely heterogeneous: more than 130 loci have been identified so far. the most common form of nshl is the autosomal recessive form (arnshl). in this study, a cohort of 36 big arnshl pedigrees with 4 or more patients from 7 provinces of iran was investig...
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expandin...
Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.
A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. A full ophthalmological and ENT work-up during several years of follow-up, including psychophysical as well as electrophysiological tests, revealed a progressive cone dystrophy in combination with sensorineural hearing loss. His younger sister presented with very similar features and underwent...
With a worldwide prevalence of about 1 in 3500-5000 individuals, Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration. It is an extremely heterogeneous group of genetically determined retinal diseases leading to progressive loss of vision due to impairment of rod and cone photoreceptors. RP can be inherited as an autosomal-recessive, autosomal-dominant, or X-link...
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