Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 276-277

  Engelen, John J M ^a   Loneus, Wim H ^a   Vaes Peeters, Gerrie ^a   Schrander Stumpel, Constance T R M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

8p duplication; Clinical diagnosis; Cytogenetic study; Kabuki syndrome

Indexed keywords

CHROMOSOME 8P; CHROMOSOME DUPLICATION; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; HUMAN; JOINT LAXITY; KABUKI MAKEUP SYNDROME; MUSCLE HYPOTONIA; PALATE MALFORMATION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CARDIOVASCULAR ABNORMALITIES; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; GENE DUPLICATION; GROWTH DISORDERS; HUMANS; MENTAL RETARDATION; SYNDROME;

EID: 11344286781     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30457     Document Type: Conference Paper

References (13)

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