Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

European Journal of Medical Genetics

Volumn 57, Issue 9, 2014, Pages 503-509

  Baquero Montoya, Carolina ^a,c   Gil Rodríguez, María Concepción ^a   Hernández Marcos, María ^a   Teresa Rodrigo, María Esperanza ^a   Vicente Gabas, Alicia ^a,b   Bernal, María Luisa ^a   Casale, Cesar Horacio ^d   Bueno Lozano, Gloria ^b   Bueno Martínez, Inés ^a,b   Queralt, Ethel ^e   Villa, Olaya ^f   Hernando Davalillo, Cristina ^f   Armengol, Lluís ^f   Gómez Puertas, Paulino ^g   Puisac, Beatriz ^a   Selicorni, Angelo ^h   Ramos, Feliciano J ^a,b   Pié, Juan ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^c HOSPITAL PABLO TOBÓN URIBE   (Colombia)

^d DEPARTAMENTO DE QUÍMICA   (Argentina)

^e BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^f Quantitative Genomic Medicine Laboratories   (Spain)

^g CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^h SAN GERARDO HOSPITAL   (Italy)

Author keywords

BHLHA9 duplication; CdLS; Cornelia de Lange Syndrome; Exome sequencing; HEAT repeat; Ipsilateral; Musculoskeletal involvement; NIPBL mutation

Indexed keywords

DNA; GENOMIC DNA; RNA; NIPBL PROTEIN, HUMAN; PROTEIN;

ARTICLE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONTRAST RADIOGRAPHY; DE LANGE SYNDROME; ECTRODACTYLY; FIBROBLAST; GENE; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; LEUKOCYTE; MALE; MISSENSE MUTATION; MOUTH EPITHELIUM CELL; MUSCULOSKELETAL DISEASE; NIPBL GENE; PRESCHOOL CHILD; PYROSEQUENCING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENEGALESE; WILD TYPE; ALLELE; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; CHEMISTRY; EXOME; GENE ORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MOLECULAR GENETICS; MUSCULOSKELETAL SYSTEM MALFORMATION; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

ALLELES; AMINO ACID SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; EXOME; GENE ORDER; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; PROTEINS; SEQUENCE ALIGNMENT;

EID: 84925965212     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.05.006     Document Type: Article

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