Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 1055-1058

  Merritt, J L ^a   Lindor, N M ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Mayo Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL GLAUCOMA; EYE EXAMINATION; HUMAN; INFANT; LETTER; MALE; MICROARRAY ANALYSIS; PHYSIOTHERAPY; PRIORITY JOURNAL; SPEECH DISORDER; WILLIAMS BEUREN SYNDROME; ARTICLE; CHROMOSOME 7; CHROMOSOME ABERRATION; DNA MICROARRAY; FAMILY; FEMALE; GENE DUPLICATION; GENETICS; GLAUCOMA; MICROCEPHALY; NUCLEIC ACID HYBRIDIZATION; PATHOPHYSIOLOGY;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 7; FAMILY; FEMALE; GENE DUPLICATION; GLAUCOMA; HUMANS; INFANT; MALE; MICROCEPHALY; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; WILLIAMS SYNDROME;

EID: 42949088032     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32235     Document Type: Letter

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