Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4

Ophthalmic Genetics

Volumn 34, Issue 1-2, 2013, Pages 78-82

  Chandra, Aman ^a,b   Aragon Martin, Jose Antonio ^a   Sharif, Saba ^c   Parulekar, Manoj ^d   Child, Anne ^a   Arno, Gavin ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c West Midlands Regional Genetics Laboratory   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

ADAMTSL4; Craniosynostosis; Ectopia lentis

Indexed keywords

ARTICLE; CASE REPORT; CODON; CRANIOFACIAL SYNOSTOSIS; ECTOPIA LENTIS; EXON; EYE EXAMINATION; FACE ASYMMETRY; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; NEWBORN; PLEIOTROPY; PRIORITY JOURNAL; SIBLING;

BASE SEQUENCE; CRANIOSYNOSTOSES; ECTOPIA LENTIS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE DELETION; THROMBOSPONDINS;

EID: 84876016895     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.710707     Document Type: Article

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