Thipwimol Tim-Aroon

Abstract Genetic defects in primary cilia-related genes are associated with a heterogeneous group of disorders known as ciliopathies. TBC1D32-related ciliopathy presents with a broad phenotypic spectrum, ranging from isolated retinal diseases to severe multisystemic involvement, including fetal demise. We report two unrelated patients with retinal disease and hypopituitarism, with one also exhibiting facial dysmorphism, developmental delay, and unilateral oculomotor nerve palsy.

All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.

CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description ajmga63639-sup-0001-Supinfo.pdfPDF document, 972.9 KB Appendix S1: Supporting information. REFERENCES , , , , , , , & (2012). Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. European Journal of Medical Genetics, 55(2), 124–127. https://doi.org/10.1016/j.ejmg.2011.12.001 , , , , , , , , , , & (2008).