Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: Two novel NIPBL mutations

Annals of Clinical and Laboratory Science

Volumn 40, Issue 1, 2010, Pages 20-25

  Park, Hyung Doo ^a   Ki, Chang Seok ^a   Kim, Jong Won ^a   Kim, Woo Taek ^b   Kim, Jin Kyung ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Catholic University of Daegu   (South Korea)

Author keywords

Cornelia de Lange syndrome; NIPBL gene mutations

Indexed keywords

NIPBL PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARM MALFORMATION; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; CLEFT PALATE; CLINICAL FEATURE; DE LANGE SYNDROME; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENITAL MALFORMATION; HEARING LOSS; HUMAN; KOREA; MALE; MENTAL DEFICIENCY; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT, NEWBORN; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 76149144333     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

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