Missense variants in TMEM67 in a patient with Joubert syndrome

Julie M. Huynh, Maureen Galindo, Christina M Laukaitis

Research output: Contribution to journalArticle

Abstract

We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM67 variants of uncertain significance (VUS). One VUS can be reclassified as “likely pathogenic” by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.

Original languageEnglish (US)
JournalClinical Case Reports
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Genetic Testing
Phenotype
Joubert syndrome 1

Keywords

  • genetic testing
  • Joubert syndrome
  • molar tooth sign
  • TMEM67
  • variants of uncertain significance

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Missense variants in TMEM67 in a patient with Joubert syndrome. / Huynh, Julie M.; Galindo, Maureen; Laukaitis, Christina M.

In: Clinical Case Reports, 01.01.2018.

Research output: Contribution to journalArticle

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