53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
1 citations
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March 2012 in “Revue neurologique” This study reports that both a 9-month-old with phenylketonuria on a phenylalanine-free diet and mice on a deficient diet exhibited severe health issues, highlighting the need for cautious dietary management.
13 citations
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April 2019 in “iScience” In this study, researchers observed that EGFR deficiency in the epidermis affects gene expression related to cell differentiation and structure, highlighting spatial and temporal roles of EGFR during skin and hair follicle development.