Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Clinical Genetics

Volumn 85, Issue 5, 2014, Pages 446-451

  Baquero Montoya, C ^a,b   Gil Rodriguez M C ^a   Teresa Rodrigo, M E ^a   Hernandez Marcos M ^a   Bueno Lozano, G ^b   Bueno Martinez I ^a,b   Remeseiro, S ^c   Fernandez Hernandez R ^d   Bassecourt Serra, M ^e   Rodriguez de Alba M ^f   Queralt, E ^d   Losada, A ^c   Puisac, B ^a   Ramos, F J ^a,b   Pie J ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^c Centro Nacional de Investigaciones Oncológicas   (Spain)

^d BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^e HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^f Department of Genetics Fundación Jiménez Díaz ^*  (Spain)

Author keywords

CdLS; Cornelia de Lange Syndrome; Human cohesinopathy; Small Supernumerary Marker Chromosome; SMC1A duplication; sSMC

Indexed keywords

COHESIN; HISTONE DEACETYLASE 8; PROTEIN; REGULATOR PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME XP; CLINICAL FEATURE; COHESINOPATHY; COMPARATIVE GENOMIC HYBRIDIZATION; DATA BASE; GENE DUPLICATION; GENE MUTATION; GENETIC DISORDER; GROWTH RETARDATION; HAND; HIRSUTISM; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MARKER CHROMOSOME; MUSCULOSKELETAL DISEASE; PHENOTYPE; POSTNATAL GROWTH; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; DE LANGE SYNDROME; DUPLICATE GENE; GENETICS; PATHOPHYSIOLOGY; X CHROMOSOME;

ADOLESCENT; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, X; DE LANGE SYNDROME; GENES, DUPLICATE; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE;

EID: 84897457403     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12194     Document Type: Article

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