1. Nat. Rev. Endocrinol. doi:10.1038/nrendo.2016.52
Figure 3 Proposed molecular diagnostic algorithm for patients suspected of having a disorder linked to defective Gsα–cAMP signalling
Figure 3 | Proposed molecular diagnostic algorithm for patients suspected of having a disorder linked to defective Gsα–cAMP signalling. In accord with a starting clinical suspicion of PHP1A, PHP1B, AHO or POH in this flow chart, we propose how to perform a multistep molecular analysis of patients. AHO, Albright hereditary osteodystrophy; DMR, differentially methylated region; MLPA, multiplex ligation-dependent probe amplification; MS, methylation- specific; PHP1A, pseudohypoparathyroidism type 1A; PHP1B, pseudohypoparathyroidism type 1B; POH, progressive osseous heteroplasia.
Mantovani, G. et al. (2016) Pseudohypoparathyroidism and Gsα–cAMP-linked disorders: current view and open issues
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