Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication

Author:

Abramowicz M. J.,Cochaux P.,Cohen L. H. F.,Vamos E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.Nature Genet 8: 83–87.

2. Horwitz SJ, Roessmann U (1978) Kearns-Sayre syndrome with hypoparathyroidism.Ann Neurol 3: 513–518.

3. Poulton J, Holt IJ (1994) Mitochondrial DNA: does more lead to less?Nature Genet 8: 313–315.

4. Rötig A, Bessis JL, Romero N, et al (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.Am J Hum Genet 50: 364–370.

5. Schon EA (1993) Mitochondria. In DiMauro S, Wallace DC, eds.Mitochondrial DNA in Human Pathology. New York: Raven Press, 1–7.

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1. Genetic regulation of parathyroid gland development;Principles of Bone Biology;2020

2. Kearns-Sayre Syndrome;Handbook of Mitochondrial Dysfunction;2019-05-15

3. Hypoparathyroidism in Mitochondrial Disorders;Hypoparathyroidism;2015

4. Genetic Regulation of Parathyroid Gland Development;Principles of Bone Biology;2008

5. Hematological Manifestations of Primary Mitochondrial Disorders;Acta Haematologica;2007

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