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Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.

Tarik DuzenliAbdullah SezerFerda Emriye Percin
Published in: American journal of medical genetics. Part A (2023)
Keyphrases
  • case report
  • young adults
  • genome wide
  • intellectual disability
  • copy number
  • dna methylation
  • autism spectrum disorder