Exclusion of the Ellis-van Creveld region of chromosome 4p 16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

European Journal of Human Genetics

Volumn 8, Issue 8, 2000, Pages 645-648

  Krakow, Deborah ^a,b   Salazar, Denise ^a   Wilcox, William R ^a,b   Rimoin, David L ^a,b   Cohn, Daniel H ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Asphyxiating thoracic dystrophy; Chromosome 4p 16; Dwarfism; Ellis van Creveld; Short rib polydactyly

Indexed keywords

ARTICLE; ASPHYXIA; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CENTROMERE; CHONDRODYSPLASIA; CHROMOSOME 4P; CONTROLLED STUDY; DYSTROPHY; ELLIS VAN CREVELD SYNDROME; GENE LOCATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEART DISEASE; HUMAN; KIDNEY DISEASE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TELOMERE; THORAX;

ASPHYXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; DWARFISM; ELLIS-VAN CREVELD SYNDROME; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PEDIGREE; PHENOTYPE; POLYDACTYLY; RIBS; SYNDROME; THORACIC DISEASES;

EID: 0033901344     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200507     Document Type: Article

References (17)

1. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases
2. Dwarfism in the Amish. I. The Ellis-van Creveld syndrome
3. The gene for Ellis-van Creveld syndrome maps to chromosome 4p16
4. The gene for Ellis-van Creveld syndrome is located on chromosome 4p16
5. Exclusion of the MSX1 homeobox gene as the gene for the Ellis-van Creveld syndrome in the Amish
6. Dystrophie thoracique asphyxiante de caractere familial
7. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral abnormalities
8. Polysyndaktylie, verkurtze Gliedmassen, und Genitalfehlbildungen: Kennzeichen eines selbstandigen Syndrome?
9. Short-rib polydactyly syndrome type III
10. Non-Majewski short rib-polydactyly syndrome
11. Short rib-dysplasia group (with/without polydactyly) report of a patient suggesting the existence of a continuous spectrum
12. La dystrophie thoracique asphyxiante: Etude radiologique et rapports avec le syndrome d'Ellis-van Creveld
13. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short-rib-polydactyly syndrome outcome spectrum: A clinicopathologic study
14. Oral-facial-skeletal syndromes
15. Genetic disorders of the osseous skeleton