Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
作者： Katherine A. Rauen , Lisa Schoyer , Frank McCormick , Angela E. Lin , Judith E. Allanson
DOI: 10.1002/AJMG.A.33183
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摘要: … in this cohort included macrocephaly, “Noonan-like face,” lipomas, … NF1 is a complex multisystem disorder with a wide range of … NS is a genetically heterogeneous disorder caused …
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