Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.

CONCLUSION: Four novel mutations were identified and a high consistency of genotype-phenotype association was found in SW CAH. Moreover, FSH and LH levels were proved to be a promising marker for predicting the severity of the disease. PMID: 30968594 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30968594?dopt=Abstract

Source: Molecular Medicine - April 8, 2019 Category: Molecular Biology Authors: Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J Tags: Mol Genet Genomic Med Source Type: research