Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Clinical Genetics

Volumn 89, Issue 1, 2016, Pages 74-81

  Parenti, I ^a,b   Gervasini, C ^a   Pozojevic, J ^b   Graul Neumann, L ^c   Azzollini, J ^a   Braunholz, D ^b   Watrin, E ^d   Wendt, K S ^e   Cereda, A ^f   Cittaro, D ^g   Gillessen Kaesbach, G ^b   Lazarevic, D ^g   Mariani, M ^f   Russo, S ^h   Werner, R ^b   Krawitz, P ^c,i   Larizza, L ^a,h   Selicorni, A ^f   Kaiser, F J ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF LÜBECK   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d CNRS   (France)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f SITRA   (Italy)

^g SAN RAFFAELE HOSPITAL   (Italy)

^h ISTITUTO AUXOLOGICO ITALIANO   (Italy)

ⁱ MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

ANKRD11; Cohesin; Cornelia de Lange syndrome; KBG syndrome; Mosaicism; Whole exome sequencing

Indexed keywords

ADOLESCENT; ANKRD11 GENE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DE LANGE SYNDROME; EXOME; FACIES; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING;

ANKRD11 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ADOLESCENT; CHILD, PRESCHOOL; DE LANGE SYNDROME; EXOME; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PHENOTYPE; REPRESSOR PROTEINS;

EID: 84955089110     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12564     Document Type: Article

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