Reference
Keppler‐Noreuil, Kim, et al. “Syndrome of Congenital Cataracts, Sensorineural Deafness, Down Syndrome‐like Facial Appearance, Short Stature, and Mental Retardation: Two Additional Cases”. American Journal of Medical Genetics Part A, vol. 143A, no. 21, Sept. 2007, pp. 2581–2587, https://doi.org/10.1002/ajmg.a.31990.
PubMed Reference Number (PMID)
17935251