Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Prenatal Diagnosis

Volumn 23, Issue 7, 2003, Pages 575-579

  Whittock, Neil V ^a   Turnpenny, Peter D ^b   Tuerlings, Joep ^c   Ellard, Sian ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

Chorionic villus sample; Delta like 3; Notch signalling; Somitogenesis; Spondylocostal dysostosis

Indexed keywords

NOTCH RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS SAMPLING; CONSANGUINEOUS MARRIAGE; DLL3 GENE; FAMILIAL DISEASE; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; JARCHO LEVIN SYNDROME; LINKAGE ANALYSIS; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RIB MALFORMATION; SEQUENCE ANALYSIS; SPINE MALFORMATION; SYNDROME DELINEATION; TURKEY (REPUBLIC); VERTEBRA MALFORMATION;

ADULT; CHORIONIC VILLI SAMPLING; CONSANGUINITY; DYSOSTOSES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FETAL DISEASES; GENETIC SCREENING; HUMANS; MALE; MUTATION; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; SPINE; TURKEY; ULTRASONOGRAPHY, PRENATAL;

EID: 0042767521     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.643     Document Type: Article

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