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Urmimala Chaudhury
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ATP6V0A2 Gene …… Location
Cytogenetic
Location: 12q24.31 Molecular
Location: Base pairs 123,712,317 ~ 123,761,754 on
chromosome 12 The ATP6V0A2 gene is located on the long (q) arm
of chromosome 12 at position 24.31, precisely from the base pair 123,712,317 to
base pair 123,761,754. ...

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ATP6V0A2 Gene ... Official Name
Official
Name: ‘ATPase, H+ transporting, lysosomal V0 subunit a2’ Official
symbol: ATP6V0A2   The ATP6V0A2 gene
is also known by the following name: E   A2V-ATPase E   ATP6a2 E   ATP6N1D E   J6B7 E   Stv1 E   TJ6 E   TJ6M E   TJ6s E   Vph1 E   VPP2_HUMAN So...

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Genes…… (1/2)
Cutis Laxa is caused by the mutation in the
following genes: E ATP6V0A2 E ATP7A E EFEMP2 E ELN /FBLN5

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Urmimala Chaudhury commented on a post on Blogger.
Thank You James

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Inheritance .....
Most of the cases Cutis Laxa is inherited. There generally
3 types of forms of genetic inheritance… E Sex
Linked E Autosomal
Dominant E Autosomal
Recessive The Autosomal Recessive form is the most common
& severe. Sex-linked The defective/mutated gene is ca...

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History .....
Historically, Cutis Laxa (CL) was often confused
with EDS (Ehlers Danlos syndrome), until 1923, when E. Parkes Webe r noted the
clinical differences between these two condition. The internal involvement and the systemic nature
of CL were elucidated by Goltz...

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The Name .....
The term ‘Cutis Laxa’ is a Latin word which means ‘ Loose/Lax Skin ’

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Cutis Laxa is all about ……
In a one liner Cutis
Laxa  is a rare inherited connective tissue disorder, characterized by
inelastic saggy skin, with droopy appearance. Connective tissue is
the body’s supporting framework of tissue consisting of strands of collagen,
elastic fibers betwee...

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Yuxin Xiaoli
Meet Yuxin Xiaoli, a 3 year old girl in China ¾ but wait a minutes
isn’t she looks like 60 ??? What Happened to her ?? Most of you are thinking that she might be
suffering from a premature aging
disorder ¾ Progeria?? Nope ----- not at all !! It’s the rare s...

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Meet Zara ..... (3/3)

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