Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
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DOI: 10.1016/j.ejmg.2018.08.001
Abstract: Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based… read more here.
Keywords: mutation; growth restriction; rttn; microcephaly ... See more keywords