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Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Friederike QuitterMonika FluryStephan WaldmuellerTina SchubertKatrin KoehlerAngela Huebner
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)
-related acromicric dysplasia and illustrates its pleiotropy by presenting a new, mild phenotype.
Keyphrases
  • intellectual disability
  • copy number
  • genome wide
  • case report
  • genome wide identification
  • gene expression
  • autism spectrum disorder
  • dna methylation
  • transcription factor