Omphalocele in an infant with Cornelia de Lange syndrome

Clinical Dysmorphology

Volumn 15, Issue 4, 2006, Pages 255-256

  Lemire, Edmond G ^a  

^a ROYAL UNIVERSITY HOSPITAL   (Canada)

Author keywords

Cornelia de Lange syndrome; NIPBL; Omphalocele

Indexed keywords

ARTICLE; DE LANGE SYNDROME; GENETIC DISORDER; GROWTH RETARDATION; HIRSUTISM; LIMB MALFORMATION; OMPHALOCELE; PRIORITY JOURNAL;

DE LANGE SYNDROME; DNA; HERNIA, UMBILICAL; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; PROTEINS;

EID: 33748558072     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000228419.74413.1b     Document Type: Article

References (2)

1. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. (2004). NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-623.
2. Jackson L, Kline AD, Barr MA, Koch S. (1993). de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47:940-946.