Login / Signup

A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Tuntas RayindaSheila M McSweeneyHiva FassihiDavid FentonLu LiuCatherine M StefanatoNick DandJohn A McGrathChristos Tziotzios
Published in: Clinical and experimental dermatology (2023)
Keyphrases
  • early onset
  • intellectual disability
  • protein protein
  • amino acid
  • autism spectrum disorder