MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects

Am J Hematol. 2019 Jan;94(1):E29-E32. doi: 10.1002/ajh.25323. Epub 2018 Dec 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Blood Proteins / deficiency*
  • Blood Proteins / genetics
  • Chromosomes, Human, X / genetics
  • Chromosomes, Human, X / ultrastructure*
  • Craniofacial Abnormalities / embryology
  • Craniofacial Abnormalities / genetics*
  • Cryptorchidism / genetics
  • Female
  • Gene Deletion*
  • Genes, X-Linked
  • Hemophilia A / embryology
  • Hemophilia A / genetics*
  • Humans
  • Hypospadias / genetics
  • Infant, Newborn
  • Limb Deformities, Congenital / embryology
  • Limb Deformities, Congenital / genetics*
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Pregnancy
  • Ultrasonography, Prenatal
  • Young Adult

Substances

  • Blood Proteins
  • MPP1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Ectrodactyly