Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Reference

Wiessner, Manuela, et al. “Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy With Cataracts and Mild Cognitive Impairment”. The American Journal of Human Genetics, vol. 100, no. 3, Feb. 2017, pp. 523–536, https://doi.org/10.1016/j.ajhg.2017.01.024.

PubMed Reference Number (PMID)

28190456