Discovery of novel variants on the chd7 gene: a case series of charge syndrome

HIGHLIGHTS

• who: Syndrome and collaborators from the The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China, Department of Neonatology have published the paper: Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome, in the Journal: (JOURNAL)
• what: In the study , data of 12 patients with the typical phenotype of CS were collected from four hospitals in different regions of southern China.

SUMMARY

Clinical diagnostic criteria of CS updated by Hale et_al. The diagnosis of CS depends on the mutation of the CHD7 gene and multiple . . .

 



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