Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet. 2011 Sep;48(9):597-601.