WebbA rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows … WebbVariants in the pleckstrin homology domain-interacting protein (PHIP) gene are implicated in the clinical phenotype of Chung-Jansen syndrome, which includes dysmorphic features, cognitive dysfunction, aberrant behavior, and childhood onset obesity. Following a systematic literature review, 35 patients are reported to have unique PHIP variants ...

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WebbUsing a customized phage display system, 9 we identified antibodies to the human protein kelch-like protein 11 (KLHL11) in this patient’s cerebrospinal fluid. KLHL11 is a member of the E3 ... WebbThe PHIP gene is located on chromosome 6 ( 6q14.1 ). Individuals normally have two chromosomes 6 with two copies of the PHIP gene. Individuals with Chung-Jansen syndrome have a defect in one of the two copies, called a heterozygous variant. fix drainlipe in whirlpool refrigerator

PHIP-associated Chung-Jansen syndrome: Report of 23 new …

WebbThis group is for parents, caregivers, therapists, support team members and adults affected with a PHIP variance (addition, deletion and/or missense). Its focus is to disseminate information about... WebbWhat is Chung-Jansen Syndrome? Chung-Jansen syndrome is a rare disorder- also called PHIP-related disorder. The syndrome is caused by a heterozygous mutation along the PHIPgene. Individuals with this disorder typically have developmental delay, behavioral … WebbThe PHIP gene encodes at least 3 proteins, PHIP, PHIP1 (also known as DCAF14), and NDRP, through alternative splicing. DCAF14 acts as a substrate receptor in a ubiquitin ligase pathway and thus mediates substrate-specific proteolysis (summary by Webster … fix dramm water sprayer head