Hum Mutat. 2016 Jul;37(7):621. doi: 10.1002/humu.23016.

https://www.ncbi.nlm.nih.gov/pubmed/27300081

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

Thompson MD¹, Cole DE².

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• Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. [Hum Mutat. 2016]

PMID: 27300081 DOI: 10.1002/humu.23016[Indexed for MEDLINE]