Thomas‐Wilson, A., Schacht, J. P., Chitayat, D., Blaser, S., Santos, F. J. R., Glaser, K., Caffo, A., Wentzensen, I. M., Henderson, L. B., Zhang, F., Zhu, Y., Di Corleto, E., da Silva Costa, F., Vink, R., Alkhunaizi, E., Russell, L., Buckley, M. F., Roscioli, T., Pereira, E. M., & Ganapathi, M. (2023). Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. American Journal of Medical Genetics Part A, 191(7), 1935–1941. Portico. https://doi.org/10.1002/ajmg.a.63203
Subjects:
Microcephaly
(MeSH)
Retinal Diseases
(MeSH)
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63203
PMID:
DOI:
Publication Date:
Data Source:
PubMed
Source Link: