Search Results - "Aguiar, Regina A.P.L."

Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome by Santos, Helena H., Garcia, Paula P., Pereira, Latife, Leão, Letícia L., Aguiar, Regina A.P.L., Lana, Ana M.A., Carvalho, Maria Raquel S., Aguiar, Marcos J.B.

“…Melnick–Needles syndrome (MNS) (OMIM 309350) is a rare, X‐linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the…”
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Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome by Santos, Helena H., Garcia, Paula P., Pereira, Latife, Leão, Letícia L., Aguiar, Regina A.P.L., Lana, Ana M.A., Carvalho, Maria Raquel S., Aguiar, Marcos J.B.

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