Ehlers-Danlos syndrome type IV: Unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Clinical Genetics

Volumn 63, Issue 3, 2003, Pages 224-227

  Kroes, H Y ^a   Pals, G ^b   van Essen, A J ^c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Amniotic band disruption sequence; COL3A1; Collagen protein profile; Danlos syndrome type IV; Ehlers; Esophageal atresia; Hydrocephaly

Indexed keywords

COLLAGEN TYPE 3;

ADULT; ARTICLE; CASE REPORT; CLUBFOOT; CONGENITAL MALFORMATION; DISEASE CLASSIFICATION; DNA DETERMINATION; EHLERS DANLOS SYNDROME; ESOPHAGUS ATRESIA; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HAND MALFORMATION; HUMAN; HYDROCEPHALUS; MACROCEPHALY; MALE; MOTHER; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS;

COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FIBROBLASTS; HUMANS; MALE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0043133664     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00047.x     Document Type: Article

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