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 J 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 frameshift mutation and introduction of a STOP codon in exon 10. Their APECED phenotypes differed, but both patients developed progressive skeletal… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 23 references

APS-I/APECED: the clinical disease and therapy.

Endocrinology and metabolism clinics of North America • 2002
View 4 Excerpts
Highly Influenced

Population genetics and functions of the autoimmune regulator (AIRE).

Endocrinology and metabolism clinics of North America • 2002
View 6 Excerpts
Highly Influenced

The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrinopathy type I

H Hedstrand, O Ekwall, +9 authors F Rorsman
J Biol Chem • 2001
View 1 Excerpt

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