Split hand-foot malformation, tetralogy of fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 975-981

  Aten, Emmelien ^a   Hollander, Nicolette Den ^a   Ruivenkamp, Claudia ^a   Knijnenburg, Jeroen ^a   Van Bokhoven, Hans ^b   Dunnen, Johan Den ^a   Breuning, Martijn ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

19p deletion; Mental retardation; Split hand foot malformation; Tetralogy of fallot

Indexed keywords

ANAMNESIS; ARTICLE; CHILD; CHROMOSOME 19P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; ECTRODACTYLY; EPS15L1 GENE; FALLOT TETRALOGY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; LIMB DEVELOPMENT; MALE; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TP73L GENE;

ANGELMAN SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; FOOT DEFORMITIES, CONGENITAL; GENETIC HETEROGENEITY; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; SYNDROME; TETRALOGY OF FALLOT;

VERTEBRATA;

EID: 66849132599     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32748     Document Type: Article

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