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Article

A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.

American journal of medical genetics. Part A - 1 Jun 2021

Strang-Karlsson Sonja, von Willebrand Maria, Avela Kristiina, Wallgren-Pettersson Carina

Abstract excerpt

Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. We describe three patients from two Finnish families in whom whole-exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the MPLKIP-gene, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4). The variant was confirmed by Sanger sequencing...

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PMID: 33729667
DOI: 10.1002/ajmg.a.62168

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