Abstract Bone Morphogenetic Proteins (BMPs) are a group of signaling molecules that
belongs to the Transforming Growth Factor-β (TGF-β) superfamily of proteins. Initially …

The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

The trabecular meshwork (TM) is located in the anterior segment of the eye and is
responsible for regulating the outflow of aqueous humor. Increased resistance to aqueous …

Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a
common class of congenital birth defects that are associated with significant morbidity and …

Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent
a continuum of structural developmental eye defects. In severe bilateral cases …

Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from
excess elongation of the eye. The etiology of myopia, although known to be complex, is …

Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …

Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger
anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an …

SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-
chamber eye anomalies, characteristic facial features, lipodystrophy, hernias …

Although a number of genetic causes have been identified, many ASD conditions are still
awaiting genetic elucidation. The majority of characterized ASD genes encode transcription …