Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA‐related segmental overgrowth: Co‐occurrence of mosaicism for 2 rare disorders

A 28‐year‐old female with PIK3CA‐related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (A (p.Gly914Arg) mutation, confirming the diagnosis of PIK3CA‐related overgrowth, but no mutations in NF2 were detected. Although VS has no...

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Veröffentlicht in:	Clinical genetics 2018-01, Vol.93 (1), p.187-190
Hauptverfasser:	Mills, J.R., Moyer, A.M., Kipp, B.R., Poplawski, A.B., Messiaen, L.M., Babovic‐Vuksanovic, D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Diagnosis Genetic analysis Headache mosaic Mosaicism Mutation Neurofibromatosis Neurofibromatosis 2 Neurofibromin 2 NF2 overgrowth PIK3CA Schwann cells Vestibular system
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