Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

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
Authors:
Amanda Thomas-Wilson
John P Schacht
David Chitayat
Susan Blaser
Francis Jeshira Reynoso Santos
Kimberly Glaser
Alesky Caffo
Ingrid M Wentzensen
Lindsay B Henderson
Futao Zhang
Ying Zhu
Ellen Di Corleto
Fabricio da Silva Costa
Rebecca Vink
Ebba Alkhunaizi
Laura Russell
Michael F Buckley
Tony Roscioli
Elaine Maria Pereira
Mythily Ganapathi
Affiliated Authors:
Amanda Thomas-Wilson
John P Schacht
Elaine Maria Pereira
Mythily Ganapathi
Subjects:
Author Keywords:
chorioretinopathy
mccrp1
microcephaly
prenatal
tubgcp6
tubulinopathy
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63203
PMID:
Publication Date:
Data Source:
PubMed

Record Created: