A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death

Journal of Clinical Pathology

Volumn 67, Issue 3, 2014, Pages 283-284

  Jones, G E ^a   Tanteles, G A ^b   Vasudevan, P C ^a   Porter, H ^a   Robertson, L ^a  

^a UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENETICS; POSTMORTEM; PREGNANCY;

AUTOPSY; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DEATH; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GESTATIONAL AGE; HUMANS; MALE; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PREGNANCY; PROTEINS;

EID: 84894235726     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2013-201856     Document Type: Letter

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