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Article

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Clinical genetics - 1 Jun 2018

Moutton S, Bruel A-L, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot A-M, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L

Abstract excerpt

Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed exome sequencing in 33 trios and 31 single probands to identify novel genes specific to MH-ID. After the search for variants in known disease-causing genes and non-disease-causing genes with classical approaches, we searched for variants in...

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Identifiers

PMID: 29460436
DOI: 10.1111/cge.13243

Genes

DLG4
PSD

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