How to Cite this Article: Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T. A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. Am J Med Genet Part A 158A:261–264.
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus†
Article first published online: 2 DEC 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 261–264, January 2012
How to Cite
Mitsui, T., Nagasaki, K., Takagi, M., Narumi, S., Ishii, T. and Hasegawa, T. (2012), A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. Am. J. Med. Genet., 158A: 261–264. doi: 10.1002/ajmg.a.34393
- Issue published online: 19 DEC 2011
- Article first published online: 2 DEC 2011
- Manuscript Accepted: 26 OCT 2011
- Manuscript Received: 30 SEP 2011
Additional supporting information may be found in the online version of this article.
|ajmg_34393_sm_SuppFig1.doc||79K||Fig. 1: (a), Microsatellite analyses using two markers flanking GNAS (D20S100 and D20S171).Note that Patient 1 and Patient 2 had the identical haplotypes. (b), Pedigree of the family and the genotypes of D20S100. Asterisks show the affected allele inherited from the mother.|
|ajmg_34393_sm_SuppFig2.doc||313K||Fig. 2: Methylation specific MLPA results for the probands and their mother. Patient 1 and Patient 2: Methylation defects at NESPAS, GNASXL and GNAS exon A/B. The mother: Methylation defect at NESP55.|
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