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Poll: Which of the following is true for the disorder affecting this infant?
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It is Genetic disorder
0%
It is Harlequin-type ichthyosis
100.00%
It is Aagenaes syndrome
0%
It is caused by some external agent
0%
It is a fake image
0%
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Can you recognize this mysterious disease? (MCQ)
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SunilNagpal Offline
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#1
01-24-2017, 01:35 AM (This post was last modified: 01-24-2017, 06:31 PM by SunilNagpal.)
An infant was recently born with this condition in India. Can any of you recognise this Disease? Is this a disease or disorder? Is it Genetic? Or affected by some environmental agent? Can this infant be treated?
[Image: rare-disorder-infants.jpg]
Sunil Nagpal
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#2
02-09-2017, 05:31 PM
I think its caused due to some environmental agent...
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#3
02-09-2017, 05:33 PM
But sir... Its there any kind of treatment 4 this...
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SunilNagpal Offline
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#4
02-09-2017, 05:55 PM
(02-09-2017, 05:33 PM)Sushmitha Wrote: But sir... Its there any kind of treatment 4 this...

Hey Sushmita,
This is Harlequin type Ichthyosis. It's rarest of rare genetic disorder...sadly there is no treatment for the disease. Management of this Disease is all that needs to be done...
Sunil Nagpal
MS(Research) Scholar, IIT Delhi (Alumnus)
Advisor for the Biotech Students portal (BiotechStudents.com)
Computational Researcher in BioSciences at a leading MNC

Suggested Reads:
Top Biotech Companies | Top places to work
Indian Biotech Companies and Job Openings
Aiming a PhD in Top Grad School? | These are the Important Points to Consider
Careers in Biotechnology | A list of various Options
Biotechnology Competitive Exams in India
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#5
02-09-2017, 07:44 PM
Thanks sir 4 ur reply... But how to manage this disease????
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#6
02-12-2017, 10:26 PM
Sir it cause due to mutation ...or something else ?
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#7
05-20-2017, 03:47 PM
(01-24-2017, 01:35 AM)SunilNagpal Wrote: An infant was recently born with this condition in India. Can any of you recognise this Disease? Is this a disease or disorder? Is it Genetic? Or affected by some environmental agent? Can this infant be treated?
[Image: rare-disorder-infants.jpg]

Sir , how this is possible ... I want to know deeply about this genetic disorders ... It's totally different like alien ..
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#8
05-22-2017, 02:20 PM
This is very strange..whether this kind of disease may lead to death?
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#9
09-16-2017, 12:32 AM
Sir, i dont know clearly how its happen
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#10
09-16-2017, 04:35 AM
It is due to the loss of function mutation on the ABCA-12 gene which is imp for the regulation of protein synth for the development of the skin
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Can you recognize this mysterious disease? (MCQ)00