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A guide for patients and their families. CAH printable booklet. Congenital Adrenal Hyperplasia. Table A. Genes and Databases. Table B. Small-scale gene conversions account for some of the common pathogenic variants, such as a combination of p.
Pro31Leu, c. Large-scale gene conversions also occur, some of which may require additional testing see Establishing the DiagnosisMolecular testing. Another common pathogenic variant is c.
Table 6. ArgLys LysArg igrl. AspGlu AspGlu c.
SerThr SerThr c. Pro31Leu Pro30Leu c.
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