A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 116-119

  Hanemaaijer, Nicolien ^a   Dijkhuizen, Trijnie ^a   Haadsma, Maaike ^a   Boeve, Margot ^a   Boon, Maartje ^a   Hordijk, Roel ^a   Kok, Klaas ^a   Sikkema Raddatz, Birgit ^a   van Ravenswaaij Arts, Conny M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Array CGH; Coloboma; Developmental delay; Duplication 1p34.1; Laryngomalacia; Microcephaly; POMGNT1

Indexed keywords

ENZYME; O MANNOSE BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; AXIS; CASE REPORT; CHROMOSOME 1P; CHROMOSOME DUPLICATION; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CONVULSION; DEVELOPMENTAL DISORDER; FEEDING DISORDER; GENE; GENE MUTATION; HERNIOPLASTY; HUMAN; INFANT; INGUINAL HERNIA; INTRAUTERINE GROWTH RETARDATION; LARYNGOMALACIA; LIMB; MALE; MICROCEPHALY; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NYSTAGMUS; PHENOTYPE; POMGNT1 GENE; VISUAL IMPAIRMENT;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; COLOBOMA; HUMANS; INFANT; LARYNGOMALACIA; MICROCEPHALY; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE;

EID: 67349118496     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.01.005     Document Type: Article

References (7)

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