Sd Noonan

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S??d??µ? Noonan

• ?? p????? s?µpt?µ?t?? ap? d??f??a s?st?µata p??
  ????? ?? a?t???????? µ??a??sµ? t? ß??ß? st?
  ?e?et??? ????? ????eta? ?? ?e?et??? s??d??µ?

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http//www.ncbi.nlm.nih.gov
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S??d??µ? Noonan

• S????t?ta 11000- 12500
• ???????µ???t?ta a?t?s?µat??? ep???at?t???

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Noonan scoring system van der Burgt et al Am J
Med Genet 53187-191, 1994
???a ?a?a?t???st??? a??e???? pte?????,
?eµf??d?µa , a?µ???a???? d???es?, ?aµ??? p??sf?s?
µa????? st?? a????a, s????? µa????
???st??? d?????s? ?ta? 1 ? ?a? ??a ap? 2 ? 6
? ? d?? ap? 2 ? 6 ? 1 ? ?a? d?? ap? 2 ? 6 ?
? t??a ap? 2 ? 6 ?
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?a?d?a??e?a??? e?d???se??

• St???s? p?e?µ?????? (50 62)
• ?pe?t??f??? µ???a?d??p??e?a (20)
• ?es????p??? ep????????a (6-10)
• ?es??????a?? ep????????a (5)
• ?????t?? a?t???a??? p???? (3)

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St???s? p?e?µ?????? ßa?ß?da?
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?pe????a ????d?a

• PTPN11 µeta????e?? a????e???ta? st? 50 t??
  ??????? d?a???sµ???? pe??pt?se??
• SOS1 µeta????e?? a????e???ta? st? 10.
• RAF1 µeta????e?? a????e???ta? st? 3-17.
• KRAS µeta????e?? a????e???ta? st? 1.

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S????e?? ap???e?

• ?p???e? ?e?ape?a
• ?p? t? ???d??e?e? ? ??e?a t?? pa?d???
• Ta e??a? sa? ta ???a pa?d??
• ???a ?a e??a? ? d?a???t??? t?? ?at?stas?
• Ta µp??e? ?a e?ta??e? st?? ???????a
• Ta µp??e? ?a d?µ??????se? ???????e?a
• ?p???e pe??pt?s? ?a a????e??e? st?? p???e???t???
  ??e???
• Fta?e? ??p???? ap? t??? ???e??
• ?? p??sf??e? ? ?e?et???? ??e????

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S????e?? ap???e?

• ?p???e? ?e?ape?a
• ?p? t? ???d??e?e? ? ??e?a t?? pa?d???
• Ta e??a? sa? ta ???a pa?d??
• ???a ?a e??a? ? d?a???t??? t?? ?at?stas?
• Ta µp??e? ?a e?ta??e? st?? ???????a
• Ta µp??e? ?a d?µ??????se? ???????e?a
• ?p???e pe??pt?s? ?a a????e??e? st?? p???e???t???
  ??e???
• Fta?e? ??p???? ap? t??? ???e??
• ?? p??sf??e? ? ?e?et???? ??e????

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