Missense variants in TMEM 67 in a patient with Joubert syndrome

Missense variants in TMEM 67 in a patient with Joubert syndrome

We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM 67 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 cl...

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Veröffentlicht in:Clinical case reports 2018-11, Vol.6 (11), p.2189-2192
Hauptverfasser: Huynh, Julie M., Galindo, Maureen, Laukaitis, Christina M.
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creator Huynh, Julie M.
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Laukaitis, Christina M.
description We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM 67 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.
doi_str_mv 10.1002/ccr3.1748
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title Missense variants in TMEM 67 in a patient with Joubert syndrome
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