Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photorecep...

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Үндсэн зохиолчид:	Jason Fan, Natasha Ferreira Santos da Cruz, Catherin I. Negron, Angela Y. Zhu, Ta C. Chang, Audina M. Berrocal
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2024-06-01
Цуврал:	American Journal of Ophthalmology Case Reports
Нөхцлүүд:	BCOR BCL6 corepressor Oculo-facio-cardio-dental syndrome OFCD Microphthalmia syndromic 2 Persistent fetal vasculature
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S2451993624000707
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!