Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1574-1580

  Ramocki, Melissa B ^a,b   Scaglia, Fernando ^a,b   Stankiewicz, Pawel ^a   Belmont, John W ^a,b   Jones, Jeremy Y ^b   Clark, Gary D ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

22q13.3 deletion syndrome; Cerebellum; Chromosome microarray; Holoprosencephaly; MTHFR; Phelan McDermid syndrome; SHANK3

Indexed keywords

ADOLESCENT; ARTICLE; BASE PAIRING; CHILD; CHROMOSOME 22Q; CHROMOSOME 22Q13.3 DELETION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; GENE DOSAGE; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC LINKAGE; HOLOPROSENCEPHALY; HUMAN; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; RHOMBENCEPHALOSYNAPSIS; SCHOOL CHILD; SIBLING; ZIC2 GENE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HOLOPROSENCEPHALY; HUMANS; INFANT; MALE; MUTATION; NUCLEAR PROTEINS; RHOMBENCEPHALON; SIBLINGS; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 79959496472     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34029     Document Type: Article

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