Abstract Introduction Orofacial clefts (OFCs) are common craniofacial birth defects with
heterogeneous phenotype and etiology. Geneticists have applied nearly every available …

The transcription factor p63 is a master regulator of multiple ectodermal derivatives. During
epidermal commitment, p63 interacts with several chromatin remodeling complexes to …

The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-
ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin …

Simple Summary The protein p63 belongs to the family of the p53 tumor suppressor. Mouse
models have, however, shown that it is not a classical tumor suppressor but instead involved …

Abstract Purpose Orofacial clefts (OFCs) are common birth defects including cleft lip, cleft lip
and palate, and cleft palate. OFCs have heterogeneous etiologies, complicating clinical …

Variants in transcription factor p63 have been linked to several autosomal dominantly
inherited malformation syndromes. These disorders show overlapping phenotypic …

Non-syndromic cleft palate (ns-CP) has a genetically heterogeneous aetiology. Numerous
studies have suggested a crucial role of rare coding variants in characterizing the …

Purpose Our study aimed to identify the genetic causes of non-syndromic primary ovarian
insufficiency (POI) in female patients. Methods We performed whole exome sequencing in …

Cleft lip and cleft palate are common birth defects resulting from genetic and/or
environmental perturbations of facial development in utero. Facial morphogenesis …

Purpose This study aimed to delineate the genetic basis of congenital ocular motor apraxia
(COMA) in patients not otherwise classifiable. Methods We compiled clinical and …