Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

BMC Medical Genetics

BMC Med Genet. 2017 Apr 5;18(1):40. DOI:10.1186/s12881-017-0391-x

Ramchander NC Ryan NA Crosbie EJ Evans DG

https://www.ncbi.nlm.nih.gov/pubmed/28381238

 

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s