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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.

T M MorganJuan M ColazoL DuncanR HamidK M Joos
Published in: Case reports in genetics (2019)
These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.
Keyphrases
  • case report
  • machine learning
  • clear cell
  • neural network