Hi Steve, My 6mth old testing came back with Mutation c.1340delA (also known as c.1471delA) which we know is a known CF mutation. Her second was p.E257G (also known as c.770A>G). I can't seem to find any information on that variant. Does this have charateristics of CF? My Daughter shows many...
I have an almost 7mth old who is failure to thrive and malnurished even though she eats a ton. She has really aweful smelling poop and GI issues. She had two sweat test at 5mths old and both were 32. We have been waiting on genetics to come back. We found out that she has mutation 1340delA (a...
I have an almost 7mth old who is failure to thrive and malnurished even though she eats a ton. She has really aweful smelling poop and GI issues. She had two sweat test at 5mths old and both were 32. We have been waiting on genetics to come back. We found out that she has mutation 1340delA (a...
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