These 62 patients with the Kabuki make‐up syndrome (KMS) were collected in a
collaborative study among 33 institutions and analyzed clinically, cytogenetically, and …

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is an autosomal-
recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis …

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive
facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate …

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay,
intellectual disability, specific facial features including long palpebral fissures and ectropion …

The pattern of X-chromosome inactivation in females is currently evaluated by assays of
differential methylation in the genes between the active and the inactive X chromosomes …

Background & Aims: We have previously reported a 75-kilodalton autoantigen specific to X-
linked autoimmune enteropathy (AIE) associated with tubulonephropathy. The aim of this …

Purpose: Expression of imprinted genes is regulated by DNA methylation of differentially
methylated regions (DMRs). Beckwith–Wiedemann syndrome is an imprinting disorder …

Previous experiments have suggested that some mutant forms of p53 are able to inactivate
the endogenous wild-type p53 protein in a dominant-negative fashion. However, it remains …

Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities
and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15. 5 …

To determine the timing and actual incidence of p53 mutations in oral epithelial lesions, we
examined 33 primary squamous cell carcinomas (SCCs), 14 dysplasias and six …