Clinical analysis of families with heart, midline, and laterality defects

American Journal of Medical Genetics

Volumn 101, Issue 4, 2001, Pages 388-392

  Morelli, Susan H ^a   Young, Luciana ^a   Reid, Barbara ^a   Ruttenberg, Herbert ^a   Bamshad, Michael J ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b SHRINERS HOSPITALS FOR CHILDREN   (United States)

Author keywords

Asplenia; Heterotaxy; Left right asymmetry; Mendelian inheritance; Neural tube defect; Polysplenia

Indexed keywords

ACCESSORY SPLEEN; ASPLENIA; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; DISEASE CLASSIFICATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROTAXY SYNDROME; HUMAN; MALE; NEURAL TUBE DEFECT; PATIENT CODING; PHENOTYPE; PRIORITY JOURNAL; SITUS INVERSUS;

ABNORMALITIES; BLOOD VESSELS; BODY PATTERNING; FAMILY HEALTH; FEMALE; FUNCTIONAL LATERALITY; HEART DEFECTS, CONGENITAL; HUMANS; MALE; NEURAL TUBE DEFECTS; PEDIGREE; PHENOTYPE;

VERTEBRATA;

EID: 0035879597     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1221     Document Type: Conference Paper

References (15)

1. Mutations in the EGF-CFC gene, CRYPTIC, cause human left-right axis abnormalities and transposition of the great arteries
2. Multiple pathways in the midline regulate concordant brain, heart, and gut left-right asymmetry
3. Heterotaxy-neural rube defect and holoprosencephaly occurring independently in two sib fetuses
4. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
5. Autosomal dominant transmission of familial laterality defects
6. Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish
7. Role of notochord in specification of cardiac left-right orientation in zebrafish and Xenopus
8. Autosomal recessive lateralization and midline defects: Blastogenesis recessive 1
9. X-linked situs abnormalities result from mutations in ZIC3
10. Primary midline developmental field. I. Clinical and epidemiological characteristics
11. Pathogenesis of sirenomelia with anencephaly and other midline defects
12. Spectrum of birth defects in children with laterality disorders
13. A gene for laterality defects maps to 3p14.2-3p12
14. Molecular mechanisms of vertebrate left-right development
15. Cardiac malformation in neonatal mice lacking connexin43