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^⌊	Unclassified Genetic Disorders

Bart Syndrome

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Bart's Syndrome

“Bart's Syndrome”

Bart Syndrome
In our body, the genetic dis-order, Bart Syndrome is caused by ultrastructural abnormalities in the anchoring fibrils indicative to a specific set of signs, symptoms or other health indicators, characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.
In our body, the genetic dis-order, Bart Syndrome may be associated with the COL7A1 gene.

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References:
Christiano AM. et al "Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene" J Invest Dermatol. 1996 Jun;106(6):1340-2
Saeed M. et al "Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia" Iran J Child Neurol. 2014 Fall;8(4):76-9

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Bart's Syndrome

Bart Syndrome

References: