Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Feberwee, H E
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. [electronic resource] - Clinical genetics Feb 2014 - 194-7 p. digital
Publication Type: Case Reports; Letter
1399-0004
10.1111/cge.12125 doi
Cataract--congenital
Codon, Nonsense--genetics
Female
Heart Septal Defects--genetics
Humans
Infant
Microphthalmos--genetics
Mutation, Missense--genetics
Proto-Oncogene Proteins--genetics
Repressor Proteins--genetics
Young Adult
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. [electronic resource] - Clinical genetics Feb 2014 - 194-7 p. digital
Publication Type: Case Reports; Letter
1399-0004
10.1111/cge.12125 doi
Cataract--congenital
Codon, Nonsense--genetics
Female
Heart Septal Defects--genetics
Humans
Infant
Microphthalmos--genetics
Mutation, Missense--genetics
Proto-Oncogene Proteins--genetics
Repressor Proteins--genetics
Young Adult