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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Beryl Royer-BertrandSebastien LebonAilsa CraigJohanna MaederLaureane Mittaz-CrettolHeidi FodstadAndrea Superti-FurgaJean-Marc Good
Published in: American journal of medical genetics. Part A (2023)
Keyphrases
  • cerebral palsy
  • botulinum toxin
  • upper limb