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A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.