A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutat...

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Bibliographic Details
Published inJournal of genetic medicine Vol. 18; no. 1; pp. 64 - 69
Main Authors Ahn, Ji Ye, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong Hee
Format Journal Article
LanguageKorean
Published The Korean Society of Medical Genetics 30.06.2021
대한의학유전학회
Subjects
Hypopituitarism
Ciliopathies
TBC1D32
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