Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1906-1916

  Rosenfeld, Jill A ^a   Drautz, Joanne Milisa ^b   Clericuzio, Carol L ^b   Cushing, Tom ^b   Raskin, Salmo ^c   Martin, Judith ^d   Tervo, Raymond C ^e   Pitarque, Jose A ^f   Nowak, Dorota M ^g   Karolak, Justyna A ^g   Lamb, Allen N ^a   Schultz, Roger A ^a   Ballif, Blake C ^a   Bejjani, Bassem A ^a   Gajecka, Marzena ^g   Shaffer, Lisa G ^a  

^a PerkinElmer   (United States)

^b UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^c GENETIKA Centro de Aconselhamento e Laboratorio de Genetica   (Brazil)

^d Providence Genetics Clinic   (United States)

^e GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^f HOSPITAL METROPOLITANO   (Ecuador)

^g INSTITUTE OF HUMAN GENETICS   (Poland)

Author keywords

5q31; ACGH; Corneal abnormality; Deletion; Duplication; Keratoconus

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX1; UNCLASSIFIED DRUG;

ARTICLE; BODY DYSMORPHIC DISORDER; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME DELETION 5Q; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CLUBFOOT; CORNEA DISEASE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE DOSAGE; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; KERATOCONUS; LIMB DEVELOPMENT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PITX1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SKELETON MALFORMATION; SMAD5 GENE; WNT8A GENE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENES, DEVELOPMENTAL; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT, NEWBORN; KERATOCONUS; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 79960555680     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34100     Document Type: Article

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