Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1409-1413

  Sellars, Elizabeth A ^a   Zimmerman, Sarah L ^a   Smolarek, Teresa ^a   Hopkin, Robert J ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

5q35.2q35.3 tetrasomy; Craniosynostosis; CSX1 gene; Hunter McAlpine syndrome; Left ventricular noncompaction; MSX2 gene

Indexed keywords

AGENESIS; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CYTOGENETICS; DISEASE SEVERITY; EPICANTHUS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENETIC DISORDER; HUMAN; HUNTER MCALPINE SYNDROME; INTRAUTERINE GROWTH RETARDATION; MSX2 GENE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TETRASOMY; THUMB APLASIA; VENTRICULAR NONCOMPACTION;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CRANIOSYNOSTOSES; FEMALE; GROWTH DISORDERS; HEART VENTRICLES; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MENTAL RETARDATION; MICROARRAY ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; TETRASOMY; THUMB;

PRUNUS DULCIS;

EID: 79956192537     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33997     Document Type: Article

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