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Neonatal progeria - Progeria






Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn


















Sequential interactions among components of the human nucleotide excision repair pathway".

Palliative care with oral morphine was instituted and the patient died at the age of 84 days during an episode of a mild respiratory infection.



These mutations can have a range of effects.


Description: The risk for other cancers such asand also increase.

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This mutation activates a cryptic splice donor site, which is responsible for the excision of the C-terminal part of exon 11, including the cleavage site of the zinc metalloprotease ZMPSTE24, an important enzyme in lamin A processing.
Patient TB in Moulson et al had a higher ratio of progerin to lamin A as patient I, but showed a milder phenotype and got 3 years old.

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    +259reps
    Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke.
    By: Bertocho|||https://en-gb.facebook.com/public/Alice-Besho|||https://twitter.com/bertocho_18|||https://www.youtube.com/channel/UCfqkuEJqL29V2HgTdYo0Gxg/videos
    +14reps
    Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability.
    By: g0rmyr|||https://www.facebook.com/MytiaZimmer/posts|||https://twitter.com/g0rmyr|||https://www.youtube.com/watch?v=K6SLQ8ZK9GQ
    +232reps
    Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of .
    By: crumble-bee|||https://www.facebook.com/bee.applecrumble|||https://twitter.com/Scrumblebee|||https://www.youtube.com/user/TheCrumbleBee
    +370reps
    Progeria is a specific type of progeroid syndrome, also known as Hutchinson-Gilford syndrome. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they are. Patients born with progeria typically live to an age of mid-teens to early twenties.
    By: AdrielTorres|||https://www.facebook.com/Adrieltorres-2042397799379703/|||https://twitter.com/AdrielTorres|||https://www.youtube.com/watch?v=jy_NFXsXJik
    +261reps
    The manuscript describes a patient with severe neonatal progeria and death at 3 months of age caused by the c.1821G>A mutation in LMNA. In contrast to classical HGPS, expression of normal lamin A.
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