7a. Type 3 Gaucher disease


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Svennerholm L et al, 1982, Progr in Biol Res

These are some of the children from northern Sweden, all of whom are L44P homozygous and yet they have highly variable manifestations from childhood to an adult person. In one family one child died in infancy but the other sibling survived until 46 years of age so this kind of phenotypic diversity is present even among affected sib pairs, which begs the question ‘what are the genetic modifiers’?

 

 

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