6

The following is of course, in case the diagnosis is confirmed. SLO is an autosomal recessive pathology, which means both parents are carrier of one mutated allele of the DHCR7. They do not express the pathology because the other allele isn't mutated and this allows for a normal function of the DHCR7 gene. This also means there is nothing that can be done ...


6

Smith-Lemli-Opitz syndrome is a genetic condition that only occurs if both parents are carriers of the mutation. For each chromosome that isn't a sex chromosome, we get one copy from each parent, so we have two copies of every gene. The "autosomal recessive pattern" means that the condition is not linked to the sex chromosomes (autosomal) and only occurs in ...


4

If you have sensorineural hearing loss and regularly use headphones, you might be listening to a louder volume than if you did not have hearing loss. This may mean you could be subjecting your hearing apparatus to potentially damaging thresholds. Hearing aids are not just fancy headphones. They are sophisticated aural rehabilitation devices that are tuned ...


3

I checked and found following coagulation problems may occur in patients with congenital cyanotic heart diseases (commonest example tetralogy of Fallot): Thrombotic episodes may occur due to: Hyperviscocity due to markedly elevated haematocrit (red cell mass), which in turn occurs due to chronic hypoxia and cyanosis Iron deficiency leading to spherical ...


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