Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis

Am J Med Genet A. 2016 Aug;170(8):2222-5. doi: 10.1002/ajmg.a.37731. Epub 2016 May 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Fingers / abnormalities*
  • Hand Deformities, Congenital / genetics*
  • Heterozygote*
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Mutation, Missense*
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*

Substances

  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1

Supplementary concepts

  • Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate