Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
American Journal Of Human Genetics
Morales, Jose J; Al-Sharif, Latifa L; Khalil, Dania S DS; Shinwari, Jameela M A JM; Bavi, Prashant P; Al-Mahrouqi, Rahima A RA; Al-Rajhi, Ali A; Alkuraya, Fowzan S FS; Meyer, Brian F BF; Al Tassan, Nada N
Publication Date: 2009-11
Variant appearance in text: FBN1: 1960+76G>A; rs17361868