Hutchinson–Gilford Progeria, more commonly known as Progeria is an extremely rare genetic condition where symptoms resembling aspects of aging are manifested at an early age. The word Progeria comes from the Greek progeros which means "prematurely old". Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.
43 comments:
Progeria
Hutchinson-Gilford-Syndrom !
Fetal Alcohol Syndrome??!!
progeria
hydrocephalous and progeria?
progera
Progeria /also known as Hutchinson–Gilford progeria syndrome /.
hydrocephalous
progeria
Hutchinson gilford progreria, occurs in prox only in 1 / 8 millions
progeria
prigeria
progeria..
Síndrome de Hutchinson-Gilford, forma mas severa de Progeria
Hutchinson's triad
Progeria.
progeria
Hutchinson–Gilford progeria syndrome
Progeria
Progeria
hydrocephalus
progeria
El dx es claro con solo er el paciente : Progeria .
progeria
Progeria
progeria
its progeria..
progeria
progeria
progeria
Microcephalic osteodysplastic primordial dwarfism
Hutchinson–Gilford Progeria, more commonly known as Progeria is an extremely rare genetic condition where symptoms resembling aspects of aging are manifested at an early age. The word Progeria comes from the Greek progeros which means "prematurely old". Progeria is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.
progeria.....
progeria
Hydrocephalus and Progeria.
progeria
Progeria
progeria
its progeria
Hutchinson–Gilford progeria syndrome
Hutchinson Gilford Progeria Syndrome
Progeria
progeria
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