Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation

Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Amino Acid Sequence
  • Base Sequence
  • Diagnosis, Differential
  • Female
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / genetics
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant
  • Limb Deformities, Congenital / pathology*
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pelvis / abnormalities
  • Phenotype*
  • Sequence Analysis, DNA
  • Syndrome
  • Uterus / abnormalities
  • Wnt Proteins / genetics*

Substances

  • WNT7A protein, human
  • Wnt Proteins

Supplementary concepts

  • Fuhrmann syndrome