CHD7
CO;2-O. PMID 9556299.
“CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome”. Clinical Genetics 75 (1): 65–71. (Jan 2009). doi:10.1111/j.1399-0004.2008.01107.x. PMC 2854009. PMID 19021638. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854009/.
“Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability”. American Journal of Medical Genetics Part A 146A (1): 43–50. (Jan 2008). doi:10.1002/ajmg.a.31921. PMID 18074359.
“A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features”. Clinical Dysmorphology 17 (4): 249–53. (Oct 2008). doi:10.1097/MCD.0b013e328306a704. PMID 18978652.