Clefts of the lip and palate (CLP), the major causes of congenital facial malformation
globally, result from failure of fusion of the facial processes during embryogenesis. With a …

Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is
involved in major cellular processes such as embryogenesis and maintenance of tissue …

Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common
human birth defects and is generally considered a complex trait. Despite numerous loci …

Hereditary diffuse gastric cancer (HDGC) is a dominantly inherited cancer syndrome
characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer …

Although de novo mutations (DNMs) are known to increase an individual's risk of congenital
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …

Diffuse gastric cancer (DGC) is a distinct histopathologic and molecular disease,
characterized by mutations in CDH1, RHOA, and others. In addition, DGC is associated with …

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision
loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential …

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one
of the most common preventable causes of intellectual disability in the world. CH may be …

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower
eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal …