Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Human Genetics

Volumn 135, Issue 10, 2016, Pages 1161-1174

  Yuan, Bo ^a   Neira, Juanita ^a   Gu, Shen ^a   Harel, Tamar ^a   Liu, Pengfei ^a   Briceño, Ignacio ^b,c,d   Elsea, Sarah H ^a   Gómez, Alberto ^b,c   Potocki, Lorraine ^a,e   Lupski, James R ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^c Instituto de Referencia Andino   (Colombia)

^d UNIVERSIDAD DE LA SABANA   (Colombia)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; RAI1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EYE DISEASE; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; HAPLOINSUFFICIENCY; HOMOLOGOUS RECOMBINATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MOSAICISM; MOTOR DYSFUNCTION; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROBLEM BEHAVIOR; RAI1 GENE; SMITH MAGENIS SYNDROME; SPEECH DELAY; YOUNG ADULT; CHROMOSOME 17; DNA REPLICATION; GENETICS; MUTATION; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; DNA COPY NUMBER VARIATIONS; DNA REPLICATION; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HOMOLOGOUS RECOMBINATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; MYELIN PROTEINS; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS;

EID: 84978119393     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1703-5     Document Type: Article

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