Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies.

@article{Harris2003ReversibleMD,
  title={Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies.},
  author={Mark F. Harris and Ouafae Kecha and Cheri Deal and Cameron Rolfe Howlett and Dorothee Deiss and Vivienne Tobias and Judith Simoneau-Roy and Jan L Walker},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 10},
  pages={4576-85}
}
We report the association of an undescribed, reversible metaphyseal dysplasia (RMD) with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in two patients, one homozygous and one heterozygous for a 13-bp deletion in exon 8 of the autoimmune regulator (AIRE) gene. One patient also had a novel deletion in exon 6, resulting in a… CONTINUE READING