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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle

Tim Rolvien1,2,3, Uwe Kornak3,4,5,6, Stephan J Linke7

  • 1Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

Calcified Tissue International
|July 17, 2020
PubMed

Keywords:
Brittle cornea syndromeEhlers-Danlos syndromeOsteogenesis imperfectaWhole-exome sequencingZNF469

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