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Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.

Yasuko KurohaTakanobu IshiguroMari TadaNorikazu HaraKei MurayamaIzumi KawachiKensaku KasugaAkinori MiyashitaArika HasegawaTetsuya TakahashiNae MatsubaraOsamu OnoderaAkiyoshi KakitaRyoko KoikeTakeshi Ikeuchi
Published in: Neurology. Genetics (2022)
deletion.
Keyphrases
  • intellectual disability
  • case report