Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot, Patricia; Coupry, Isabelle; Rooryck, Caroline; Deforges, Julie; Maurat, Elise; Solé, Guilhem; Boute, Odile; Dieux-Coeslier, Anne; David, Albert; Marchal, Cécile; Thambo, Jean-Benoit; Lacombe, Didier; Arveiler, Benoit; Goizet, Cyril.
Eur J Med Genet
; 55(5): 313-8, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22366253
Germline mosaicism in X-linked periventricular nodular heterotopia.
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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.