Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene

Annales de Genetique

Volumn 45, Issue 2, 2002, Pages 59-62

  Stoll, C ^a   Sauvage, P ^b  

^a HÔPITAL DE HAUTEPIERRE   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Cleft palate; Lobulated tongue; Median cleft lip; Oro facial digital syndrome; Renal insufficiency; X linked dominant

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DYSOSTOSIS; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; PATHOGENESIS; CLEFT LIP; CLEFT PALATE; DIFFERENTIAL DIAGNOSIS; FOOT MALFORMATION; GENETIC LINKAGE; GENETICS; HAND MALFORMATION; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOLLOW-UP STUDIES; FOOT DEFORMITIES, CONGENITAL; FRAMESHIFT MUTATION; HAND DEFORMITIES, CONGENITAL; HUMAN; INFANT; INFANT, NEWBORN; KIDNEY FAILURE; LINKAGE (GENETICS); MALE; OROFACIODIGITAL SYNDROMES; X CHROMOSOME; CHROMOSOMES, HUMAN, X; HUMANS;

INSERTION SEQUENCES; RAPHIA FRATER;

EID: 0036021290     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(02)01116-4     Document Type: Article

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