Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up

Mustafa Safi; Salimeh Khazaei Nejad; Mary O’Hara; Suma P. Shankar

doi:10.3928/01913913-20190509-01

Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up

Mustafa Safi
, Salimeh Khazaei Nejad
, Mary O’Hara
, Suma P. Shankar

Department of Ophthalmology and Visual Sciences

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	E45-E48
Journal	Journal of Pediatric Ophthalmology and Strabismus
Volume	56
Issue number	6
DOIs	https://doi.org/10.3928/01913913-20190509-01
State	Published - Jul 5 2019

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title = "Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up",

abstract = "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.",

author = "Mustafa Safi and Nejad, \{Salimeh Khazaei\} and Mary O{\textquoteright}Hara and Shankar, \{Suma P.\}",

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AU - Safi, Mustafa

AU - Nejad, Salimeh Khazaei

AU - O’Hara, Mary

AU - Shankar, Suma P.

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 - https://www.scopus.com/pages/publications/85069287379

U2 - 10.3928/01913913-20190509-01

DO - 10.3928/01913913-20190509-01

M3 - Article

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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 -

Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up

Abstract

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