A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

Reference

Al‐Gazali, L., et al. “A New Autosomal Recessive Syndrome of Ocular Colobomas, Ichthyosis, Brain Malformations and Endocrine Abnormalities in an Inbred Emirati Family”. American Journal of Medical Genetics Part A, vol. 146A, no. 7, Jan. 2008, pp. 813–819, https://doi.org/10.1002/ajmg.a.32114.

PubMed Reference Number (PMID)

18271001