Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette.

Affiliation

Krøigård AB; Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark. anne.kroeigaard@rsyd.dk.
Clemmensen O; Department of Clinical Pathology, Odense University Hospital, Odense, Denmark. anne.kroeigaard@rsyd.dk.
Gjørup H; Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.
Hertz JM; Department of Maxillofacial Surgery, Center for Oral Health in Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Bygum A; Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark.

BMC Dermatol ; 16: 3, 2016 Mar 10.

Article in En | MEDLINE | ID: mdl-26964878

Subject(s)

Codon, Nonsense; Ectodermal Dysplasia/genetics; Homozygote; Odontodysplasia/genetics; Wnt Proteins/genetics; Adult; Female; Humans

Key words

Ectodermal dysplasia; OODD; Odonto-onycho-dermal dysplasia; Oligodontia; WNT10A gene

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ectodermal Dysplasia / Odontodysplasia / Codon, Nonsense / Wnt Proteins / Homozygote Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: BMC Dermatol Journal subject: DERMATOLOGIA Year: 2016 Document type: Article Affiliation country: Denmark Country of publication: United kingdom

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