Although genomic research has predominantly relied on phenotypic ascertainment of
individuals affected with heritable disease, the falling costs of sequencing allow …

In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

Background: DSD encompass a wide range of pathologies that impact gonad formation,
development, and function in both 46, XX and 46, XY individuals. The majority of these …

Monogenic syndromic disorders frequently feature ocular manifestations, one of which is
glaucoma. In many cases, glaucoma in children may go undetected, especially in those that …

Background Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that
variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic …

Purpose: Nanophthalmos is a rare genetic disorder commonly characterized by a short axial
length (AL) and severe hyperopia. Mutations that have been identified through Mendelian …

Precise regulation of ocular size is a critical determinant of normal visual acuity. Although it
is generally accepted that ocular growth relies on a cascade of signaling events transmitted …

Oligodendrocyte (OL) myelination is a critical process for the neuronal axon function in the
central nervous system. After demyelination occurs because of pathophysiology …

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant
high hyperopia. While six genes have been implicated in this hereditary condition (MFRP …

Purpose To (i) describe a series of patients with isolated or syndromic nanophthalmos with
the underlying genetic causes, including novel pathogenic variants and their functional …