Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

American Journal of Medical Genetics, Part A

Volumn 161, Issue 11, 2013, Pages 2909-2919

  Gervasini, Cristina ^a   Russo, Silvia ^b   Cereda, Anna ^c   Parenti, Ilaria ^a   Masciadri, Maura ^b   Azzollini, Jacopo ^a   Melis, Daniela ^d   Aravena, Teresa ^e   Doray, Bérénice ^f   Ferrarini, Alessandra ^g   Garavelli, Livia ^h   Selicorni, Angelo ^c   Larizza, Lidia ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^f UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^g SAN GIOVANNI HOSPITAL   (Switzerland)

^h S MARIA NUOVA HOSPITAL   (Italy)

Author keywords

Cornelia de Lange syndrome; Gender effect; Genotype phenotype correlations; In silico prediction tools; SMC1A mutations

Indexed keywords

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; DE LANGE SYNDROME; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GENETIC SCREENING; HAND MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SMC1A GENE;

CORNELIA DE LANGE SYNDROME; GENDER EFFECT; GENOTYPE-PHENOTYPE CORRELATIONS; IN SILICO PREDICTION TOOLS; SMC1A MUTATIONS;

ADOLESCENT; AMINO ACID SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; EXONS; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 84886314760     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36252     Document Type: Article

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