Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Gene

Volumn 537, Issue 2, 2014, Pages 279-284

  Minor, Agata ^a   Shinawi, Marwan ^b   Hogue, Jacob S ^c   Vineyard, Marisa ^b   Hamlin, Damara R ^c   Tan, Christopher ^a   Donato, Kirsten ^a   Wysinger, Latrice ^a   Botes, Shaun ^a   Das, Soma ^a   Del Gaudio, Daniela ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SAN ANTONIO MILITARY MEDICAL CENTER   (United States)

Author keywords

Cornelia de Lange syndrome; Exonic copy number variants; Frameshift mutation; Germline mutation; RAD21

Indexed keywords

ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CHILDHOOD DISEASE; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; DISEASE TRANSMISSION; EXON; FACE DISORDER; FAMILIAL DISEASE; FOOT MALFORMATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC SCREENING; HAND MALFORMATION; HIRSUTISM; HUMAN; HYPOSPADIAS; INGUINAL HERNIA; MALE; MEDICAL HISTORY; MELANOMA; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RAD21 GENE; SCHOOL CHILD;

CDLS; COMPARATIVE THRESHOLD CYCLE METHOD; CORNELIA DE LANGE SYNDROME; DDCT; EXONIC COPY NUMBER VARIANTS; FRAMESHIFT MUTATION; GERMLINE MUTATION; OCCIPITOFRONTAL CIRCUMFERENCE; OFC; RAD21;

ADULT; CHILD, PRESCHOOL; DE LANGE SYNDROME; DEVELOPMENTAL DISABILITIES; EXONS; FEMALE; FRAMESHIFT MUTATION; HIRSUTISM; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOPROTEINS;

EID: 84893674218     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.12.045     Document Type: Article

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