Showing posts from December, 2020

VACTERL/VATER ASSOCIATION

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

Gitelman

Autosomal Recessive condition  More common than Bartter syndrome  Mimics chron…

Bartter Syndrome

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

Lissencephaly

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

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