Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype

Ophthalmic Genetics

Volumn 36, Issue 1, 2015, Pages 58-63

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^b   Alsharif, Hadeel ^b   Alkuraya, Fowzan S ^b,c  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Ectopia lentis; Lens subluxation; LEPREL1

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CATARACT; CATARACT EXTRACTION; CHROMOSOME 3; CILIARY DISK; CONSANGUINEOUS MARRIAGE; CONVERGENT STRABISMUS; ECHOCARDIOGRAPHY; ECTOPIA LENTIS; EYE EXAMINATION; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; KERATOMETRY; LENS; LENS IMPLANTATION; LENS SUBLUXATION; LENSECTOMY; LEPREL1 GENE; MYOPIA; PATIENT HISTORY OF SURGERY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECESSIVE GENE; RETINA DETACHMENT; SIBLING; SLIT LAMP; URINALYSIS; VISUAL ACUITY; VISUAL DISORDER; VITRECTOMY; YOUNG ADULT; CHILD; CONSANGUINITY; EXON; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

LEPREL1 PROTEIN, HUMAN; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE;

ADOLESCENT; BASE SEQUENCE; CATARACT; CATARACT EXTRACTION; CHILD; CONSANGUINITY; ECTOPIA LENTIS; EXONS; FEMALE; GENES, RECESSIVE; GENETIC TESTING; HOMOZYGOTE; HUMANS; LENS SUBLUXATION; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROCOLLAGEN-PROLINE DIOXYGENASE; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84922932968     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2014.985847     Document Type: Article

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