Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie۲۰۲۶نمایه شده در PubMed
Kazuma Oku, Kei Mizobuchi, Kiyofumi Mochizuki, Kazushige Tsunoda, Itsuka Matsushita, Tatsuo Nagata, Kaoru Fujinami, Akiko Suga, Kazutoshi Yoshitake, Hirokazu Sakaguchi, Takaaki Hayashi, Takeshi Iwata, Hiroyuki Kondo
چکیده
PURPOSE: To determine the clinical characteristics and the causative genetic variant of a familial case of pigmented paravenous retinochoroidal atrophy (PPRCA). METHODS: Whole exome sequencing (WES) was performed on ten individuals from four families. Their clinical characteristics were determined…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1007/s00417-025-07107-x