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Article

Is MED13L-related intellectual disability a recognizable syndrome?

European journal of medical genetics - 1 Feb 2019

Tørring Pernille Mathiesen, Larsen Martin Jakob, Brasch-Andersen Charlotte, Krogh Lotte Nylandsted, Kibæk Maria, Laulund Lone, Illum Niels, Dunkhase-Heinl Ulrike, Wiesener Antje, Popp Bernt, Marangi Giuseppe, Hjortshøj Tina Duelund, Ek Jakob, Vogel Ida, Becher Naja, Roos Laura, Zollino Marcella, Fagerberg Christina Ringmann

Abstract excerpt

INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients. MATERIALS AND METHODS: In the search for genetic aberrations in individuals with ID, two...

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Identifiers

PMID: 29959045
DOI: 10.1016/j.ejmg.2018.06.014

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