Showing posts from December, 2020

VACTERL/VATER ASSOCIATION

NiScHaL

Why not syndrome and why association? VATER or VACTERL is not a syndrome as …

nephrology

Gitelman

NiScHaL

Autosomal Recessive condition  More common than Bartter syndrome  Mimics chron…

nephrology

Bartter Syndrome

NiScHaL

Autosomal Recessive disorder. Characterized by defect in the Na-K-Cl channel i…

neurology

Lissencephaly

NiScHaL

Also known as agyria Some 65% are associated with mutations in the LIS1 gene…

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