Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

CONCLUSIONS: By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation. PMID: 30942644 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research