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(facial lipoatrophy syndrome)
435 results
  • Pseudoacromegaly. [Review]
  • FNFront Neuroendocrinol 2019; 52:113-143
  • Marques P, Korbonits M
  • Individuals with acromegaloid physical appearance or tall stature may be referred to endocrinologists to exclude growth hormone (GH) excess. While some of these subjects could be healthy individuals …
  • Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. [Journal Article]
  • JMJ Med Genet 2018; 55(12):837-846
  • Paolacci S, Li Y, … Hennekam RC
  • CONCLUSIONS: Biallelic mutations in POLR3A, which encodes for the largest subunit of the DNA-dependent RNA polymerase III, underlie WRS. No isolated functional sites in POLR3A explain the phenotype variability in POLR3A-related disorders. We suggest that specific combinations of compound heterozygous variants must be present to cause the WRS phenotype. Our findings expand the molecular mechanisms contributing to progeroid disorders.
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