Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

Am J Med Genet A. 2021 Dec;185(12):3900-3904. doi: 10.1002/ajmg.a.62438. Epub 2021 Jul 27.

¹ Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
² Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University, Tbilisi, Georgia.
³ Cologne Center for Genomics, University of Cologne, Cologne, Germany.
⁴ Department of Pediatrics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
⁵ Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
⁶ Institute of Structural Biology, University of Bonn, School of Medicine, Bonn, Germany.

No abstract available

Keywords: congenital alopecia; hypotrichosis simplex; intellectual disability; lanosterol synthase; prenatal diagnostics.

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