TY - JOUR
T1 - Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up
AU - Safi, Mustafa
AU - Nejad, Salimeh Khazaei
AU - O’Hara, Mary
AU - Shankar, Suma P.
N1 - Publisher Copyright:
Copyright © SLACK Incorporated.
PY - 2019/7/5
Y1 - 2019/7/5
N2 - Ectopia lentis is displacement of the lens from its original position. It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis.
AB - Ectopia lentis is displacement of the lens from its original position. It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis.
UR - http://www.scopus.com/inward/record.url?scp=85069287379&partnerID=8YFLogxK
U2 - 10.3928/01913913-20190509-01
DO - 10.3928/01913913-20190509-01
M3 - Article
C2 - 31282960
AN - SCOPUS:85069287379
SN - 0191-3913
VL - 56
SP - E45-E48
JO - Journal of Pediatric Ophthalmology and Strabismus
JF - Journal of Pediatric Ophthalmology and Strabismus
IS - 6
ER -