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Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

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GeneReviews® [Internet].

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Figure 1

Figure 1

(A) Algorithms to determine when and what type of PHOX2B genetic testing should be performed in various clinical scenarios in which CCHS and LO-CCHS are suspected or confirmed
(B) Algorithm to determine when and what type of PHOX2B genetic testing should be performed in the parents of a proband with CCHS

*The PHOX2B Sequencing Test will not identify low-level mosaicism [Jennings et al 2010]

Weese-Mayer et al [2012]; used by permission of Elsevier

From: Congenital Central Hypoventilation Syndrome

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