Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J. Morell, Asma Ali Khan, Muhammad A. Usmani, William Newman, Sheikh Riazuddin, Thomas B Friedman

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to) 584-586
JournalClinical Genetics
Volume105
Issue number5
Early online date17 Mar 2024
DOIs
Publication statusPublished - 1 May 2024

Keywords

  • CLPP
  • deafness
  • developmental delay
  • ovarian dysgenesis
  • Perrault syndrome

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