Total: 1 |
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PMID (PMCID) | ||
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20888935 |
MALE | Child |
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. | ||
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Sole G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Eur J Med Genet. 2011;54(1):25-8. |
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Respiratory manifestations have not been associated with FLNA disorders with the exception of tracheal stenosis and pulmonary hypoplasia associated with frontometaphyseal dysplasia and Melnick-Needles syndrome. |