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Article

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

European journal of medical genetics - 1 Sept 2017

Asadollahi Reza, Zweier Markus, Gogoll Laura, Schiffmann Raphael, Sticht Heinrich, Steindl Katharina, Rauch Anita

Abstract excerpt

A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Diagnosis, Differential

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Share to Heart Defects, Congenital

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Source

Identifiers

PMID: 28645799
DOI: 10.1016/j.ejmg.2017.06.004

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Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.PMID 28645799Read ↗

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