A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Nature Genetics

Volumn 38, Issue 9, 2006, Pages 999-1001

  Koolen, David A ^a   Vissers, Lisenka E L M ^a   Pfundt, Rolph ^a   De Leeuw, Nicole ^a   Knight, Samantha J L ^b   Regan, Regina ^b   Kooy, R Frank ^c   Reyniers, Edwin ^c   Romano, Corrado ^d   Fichera, Marco ^d   Schinzel, Albert ^e   Baumer, Alessandra ^e   Anderlid, Britt Marie ^f   Schoumans, Jacqueline ^f   Knoers, Nine V ^a   Van Kessel, Ad Geurts ^a   Sistermans, Erik A ^a   Veltman, Joris A ^a   Brunner, Han G ^a   De Vries, Bert B A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e UNIVERSITY OF ZURICH   (Switzerland)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN CRHR1; PROTEIN MAPT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BRAIN MALFORMATION; CHROMOSOME 17Q; CHROMOSOME DELETION; CLINICAL GENETICS; CONTROLLED STUDY; DISEASE ASSOCIATION; FACE MALFORMATION; FEMALE; GENE NUMBER; GENETIC POLYMORPHISM; GENOMICS; HOMOLOGOUS RECOMBINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROSCOPY; MUSCLE HYPOTONIA; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME;

ADOLESCENT; ADULT; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COHORT STUDIES; FACE; FEMALE; GENE DOSAGE; GENE FREQUENCY; HAPLOTYPES; HUMANS; INVERSION, CHROMOSOME; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, GENETIC; PREVALENCE; RECEPTORS, CORTICOTROPIN-RELEASING HORMONE; SYNDROME; TAU PROTEINS;

EID: 33748323156     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1853     Document Type: Article

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