Rubinstein-Taybi syndrome associated with chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 479-483

  Wójcik, Cezary ^a,b   Volz, Kim ^a   Ranola, Maria ^a   Kitch, Karla ^a   Karim, Tariza ^a   O'Neil, Joseph ^c   Smith, Jodi ^c   Torres Martinez, Wilfredo ^c  

^a Deaconess Hospital Evansville   (United States)

^b Indiana University School of Medicine Evansville   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

16p13.3 microdeletion; Chiari type 1 malformation; Contiguous gene syndrome; Corpus callosum; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ADCY9 GENE; ARNOLD CHIARI MALFORMATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONFLUENCE OF SINUSES; CORPUS CALLOSUM AGENESIS; CRANIECTOMY; DECOMPRESSION; DISEASE ASSOCIATION; DNA MICROARRAY; FEMALE; GENE; GENE DELETION; HUMAN; INFANT; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGONUCLEOTIDE PROBE; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SRL GENE;

ADENYLATE CYCLASE; ADULT; ARNOLD-CHIARI MALFORMATION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; CREB-BINDING PROTEIN; CYTOGENETICS; FEMALE; GENE DELETION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RUBINSTEIN-TAYBI SYNDROME; SYNDROME;

EID: 75449114422     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33303     Document Type: Article

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