back to homepage

Tag "Aarskog Syndrome"

What are the signs and symptoms of Aarskog Syndrome?

This is characterized by: 1. Short Height. 2. Hypertelorism, that is abnormally increased space between two bodily parts or organs mostly eyes. 3. Laxity i.e looseness of joints. 4. Downward

Read More

What is the molecular biology of Aarskog Syndrome?

It occurs due to the mutation in FGDI gene. It encodes a GEF which refers to guanine nucleotide exchange factor. It activates a cdc 42 which is a member of

Read More