Article
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
American journal of medical genetics. Part A - 1 May 2023
Harris Sarah C, Chong Karen, Chitayat David, Gilmore Kelly L, Jorge Alexander A L, Freire Bruna L, Lerario Antonio, Shannon Patrick, Cope Heidi, Gallentine William B, Le Guyader Gwenal, Bilan Frederic, Létard Pascaline, Davis Erica E, Vora Neeta L
Abstract excerpt
Exome sequencing is a powerful tool in prenatal and postnatal genetics and can help identify novel candidate genes critical to human development. We describe seven unpublished probands with rare likely pathogenic variants or variants of uncertain significance that segregate with recessive disease in TBC1D32, including four fetal probands in three unrelated pedigrees and three pediatric probands in unrelated...
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