Article
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
American journal of human genetics - 1 Apr 2004
Zenker Martin, Rauch Anita, Winterpacht Andreas, Tagariello Andreas, Kraus Cornelia, Rupprecht Thomas, Sticht Heinrich, Reis André
Abstract excerpt
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital (OPD) spectrum, are caused by FLNA mutations. They are considered mutually exclusive because of the different presumed effects of the respective FLNA gene mutations, leading to loss of function (PVNH) and gain of function (OPD), respectively. We describe here the first patient...
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