De novo heterozygous mutations in SMC3 cause a range of cornelia de lange syndrome-overlapping phenotypes

Human Mutation

Volumn 36, Issue 4, 2015, Pages 454-462

  Gil Rodríguez, María Concepción ^a   Deardorff, Matthew A ^b,c   Ansari, Morad ^d   Tan, Christopher A ^e   Parenti, Ilaria ^f,g   Baquero Montoya, Carolina ^a,h   Ousager, Lilian B ⁱ   Puisac, Beatriz ^a   Hernández Marcos, María ^a   Teresa Rodrigo, María Esperanza ^a   Marcos Alcalde, Iñigo ^j   Wesselink, Jan Jaap ^k   Lusa Bernal, Silvia ^k   Bijlsma, Emilia K ^l   Braunholz, Diana ^f   Bueno Martinez, Inés ^a,m   Clark, Dinah ^b   Cooper, Nicola S ⁿ   Curry, Cynthia J ^o   Fisher, Richard ^p   Fryer, Alan ^q   Ganesh, Jaya ^b,c   Gervasini, Cristina ^g   Gillessen Kaesbach, Gabriele ^f   Guo, Yiran ^b   Hakonarson, Hakon ^b,c   Hopkin, Robert J ^r   Kaur, Maninder ^b   Keating, Brendan J ^b,c   Kibaek, María ^s   Kinning, Esther ^t   Kleefstra, Tjitske ^u   Kline, Antonie D ^v   Kuchinskaya, Ekaterina ^w   Larizza, Lidia ^g   Li, Yun R ^b,c   Liu, Xuanzhu ^x   Mariani, Milena ^y   Picker, Jonathan D ^z   Pié, Ángeles ^a   Pozojevic, Jelena ^f   Queralt, Ethel ^aa   Richer, Julie ^ab   Roeder, Elizabeth ^ac   Sinha, Anubha ⁿ   Scott, Richard H ^ad,ae   So, Joyce ^af,ag,ah   Wusik, Katherine A ^r   Wilson, Louise ^ad   Zhang, Jianguo ^x   Gómez Puertas, Paulino ^j   Casale, César H ^ai   Ström, Lena ^aj   Selicorni, Angelo ^y   Ramos, Feliciano J ^a,m   Jackson, Laird G ^ak   Krantz, Ian D ^b,c   Das, Soma ^e   Hennekam, Raoul C M ^al   Kaiser, Frank J ^f   Fitzpatrick, David R ^d   Pié, Juan ^a   more..

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF CHICAGO   (United States)

^f UNIVERSITY OF LÜBECK   (Germany)

^g UNIVERSITY OF MILAN   (Italy)

^h HOSPITAL PABLO TOBÓN URIBE   (Colombia)

ⁱ ODENSE UNIVERSITY HOSPITAL   (Denmark)

^j CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^k UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

ⁿ BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^q ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^r CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^s HC Andersen Child Hospital   (Denmark)

^t SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^u RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^v GREATER BALTIMORE MEDICAL CENTER   (United States)

^w LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^x BGI SHENZHEN   (China)

^y UNIVERSITY OF MILANO BICOCCA   (Italy)

^z BOSTON CHILDREN S HOSPITAL   (United States)

^aa BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^ab CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^ac UNIVERSITY OF TEXAS AT SAN ANTONIO   (United States)

^ad GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^ae UNIVERSITY COLLEGE LONDON   (United Kingdom)

^af CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^ag UNIVERSITY HEALTH NETWORK   (Canada)

^ah UNIVERSITY OF TORONTO   (Canada)

^ai DEPARTAMENTO DE QUÍMICA   (Argentina)

^aj KAROLINSKA INSTITUTE   (Sweden)

^ak DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^al UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

CdLS; CdLS like; CdLS overlapping phenotypes; Cohesin complex; Cornelia de Lange syndrome; SMC3

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; COHESIN; HETERODIMER; MESSENGER RNA; PROTEIN; SMC3 PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; PROTEOCHONDROITIN SULFATE; SMC3 PROTEIN, HUMAN;

ARTICLE; CLINICAL FEATURE; COMPUTER MODEL; DE LANGE SYNDROME; ENZYME ACTIVITY; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; ALLELE; CLINICAL TRIAL; COHORT ANALYSIS; FACIES; FEMALE; GENETICS; GENOTYPE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; MALE; MULTICENTER STUDY; MUTATION;

ALLELES; CELL CYCLE PROTEINS; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; COHORT STUDIES; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; EXOME; FACIES; FEMALE; GENOTYPE; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 84925845145     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22761     Document Type: Article

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