Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

Organ- or function-preservation surgery is recommended, but who is a candidate?

“…15 Additionally, the whole genome sequence and precise medicine have appealed to the general population. 16 All suggest that the estimated or accumulated risk www.ejcma.org Liu et al…”

“…15 Additionally, the whole genome sequence and precise medicine have appealed to the general population. 16 All suggest that the estimated or accumulated risk of certain diseases or the general population should always be balanced between the risks and benefits of organ- or function-preservation treatment.…”

Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report

“…However, as far as we know, in all of them there have been a definite or probable clinical diagnosis. In the current study, no preliminary clinical diagnosis or assumption were given to deceased patients, and from this point of view it could be assumed as the first report of its kind [ 20 , 21 , 22 ].…”

“…Second, genotype–phenotype correlation is not straightforward and there is always concern around other possibilities which may be missed. This makes genetic counseling complicated, and any clinical intervention based on these findings must be advised more cautiously [ 22 , 30 ]…”