A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 12, 2008, Pages 1605-1608

  De Medeiros, Filipe ^a   Hansen, Lars ^b   Mawlad, Evete ^b   Eiberg, Hans ^b   Asklund, Camilla ^a   Tommerup, Niels ^b   Jakobsen, Linda P ^a,b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Hypospadias; IRF6; Popliteal pterygium syndrome; Renal aplasia; Van der Woude syndrome

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

ANKYLOBLEPHARON; ARTICLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; CONGENITAL DISORDER OF GLYCOSYLATION; FAMILY; FERTILIZATION IN VITRO; GENE MUTATION; GENE SEQUENCE; GENITAL MALFORMATION; HUMAN; HYPOSPADIAS; KIDNEY AGENESIS; KIDNEY MALFORMATION; LIP DISEASE; MALE; MISSENSE MUTATION; POPLITEAL PTERYGIUM SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; SKIN DISEASE; VAN DER WOUDE SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; HUMANS; INTERFERON REGULATORY FACTORS; KIDNEY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SYNDROME;

EID: 44849088875     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32257     Document Type: Article

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