概要 |
CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA.
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著者 |
Rodriguez-Laguna L, Ibanez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespin E, Fernandez-Montano VE, Martin-Arenas R, Del Pozo A, Gonzalez-Pecellin H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V |