Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Birth defects research. Part A, Clinical and molecular teratology

Volumn 106, Issue 4, 2016, Pages 304-307

  Smigiel, Robert ^a   Cabala, Magdalena ^a   Jakubiak, Aleksandra ^a   Kodera, Hirofumi ^a   Sasiadek, Marek J ^a   Matsumoto, Naomichi ^a   Sasiadek, Maria M ^a   Saitsu, Hirotomo ^a  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

cataract; COL4A1; congenital infection; developmental delay; periventricular calcifications; Schizencephaly

Indexed keywords

COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4;

BODY DYSMORPHIC DISORDER; CASE REPORT; CATARACT; FEMALE; GENETICS; HUMAN; HUMAN PARVOVIRUS B19; MUTATION; NEWBORN; PARVOVIRUS INFECTION; PATHOLOGY; SCHIZENCEPHALY;

BODY DYSMORPHIC DISORDERS; CATARACT; COLLAGEN TYPE IV; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; PARVOVIRIDAE INFECTIONS; PARVOVIRUS B19, HUMAN; SCHIZENCEPHALY;

EID: 85013733344     PISSN: None     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23488     Document Type: Article

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