periventricular nodular heterotopia type 4

An X-linked dominant developmental disorder (OMIM:300537) characterised by the presence of nodular brain heterotopia, joint hypermobility and development of aortic dilation in early adulthood.
Molecular pathology
Defects in FLNA, which encodes filamin A, an actin-binding protein, cause periventricular nodular heterotopia type 4. A less common, autosomal recessive form of periventricular nodular heterotopia is caused by mutations in ARFGEF2, which encodes ADP-ribosylation factor guanine nucleotide-exchange factor, a protein involved in membrane trafficking

单词	periventricular nodular heterotopia type 4
释义	periventricular nodular heterotopia type 4 periventricular nodular heterotopia type 4 An X-linked dominant developmental disorder (OMIM:300537) characterised by the presence of nodular brain heterotopia, joint hypermobility and development of aortic dilation in early adulthood. Molecular pathology Defects in FLNA, which encodes filamin A, an actin-binding protein, cause periventricular nodular heterotopia type 4. A less common, autosomal recessive form of periventricular nodular heterotopia is caused by mutations in ARFGEF2, which encodes ADP-ribosylation factor guanine nucleotide-exchange factor, a protein involved in membrane trafficking
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