Identification of an HMGB3 frameshift mutation in a family with an x-linked colobomatous microphthalmia syndrome using whole-genome and x-exome sequencing

JAMA Ophthalmology

Volumn 132, Issue 10, 2014, Pages 1215-1220

  Scott, Alan F ^a   Mohr, David W ^a   Kasch, Laura M ^a   Barton, Jill A ^a   Pittiglio, Raquel ^a   Ingersoll, Roxann ^a   Craig, Brian ^a   Marosy, Beth A ^a   Doheny, Kimberly F ^a   Bromley, William C ^b   Roderick, Thomas H ^b   Chassaing, Nicolas ^c   Calvas, Patrick ^c   Prabhu, Shreya S ^d   Jabs, Ethylin Wang ^a,d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JACKSON LABORATORY   (United States)

^c TOULOUSE UNIVERSITY HOSPITAL   (France)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; HIGH MOBILITY GROUP B3 PROTEIN; POLYGLUTAMIC ACID;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE INSERTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOME ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MICROPHTHALMIA; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; PROTEIN MOTIF; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; X LINKED COLOBOMATOUS MICROPHTHALMIA SYNDROME; COLOBOMA; DNA SEQUENCE; GENETICS; GROWTH DISORDER; HUMAN GENOME; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; PEDIGREE; X CHROMOSOME;

CHILD; CHROMOSOMES, HUMAN, X; COLOBOMA; EXOME; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; GENOME, HUMAN; GROWTH DISORDERS; HMGB3 PROTEIN; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MICROPHTHALMOS; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84908110205     PISSN: 21686165     EISSN: 21686173     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.1731     Document Type: Article

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