Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43

Oculo‐dento‐digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly expressed in skin, ODDD is usually not associated with skin symptoms. We recently described a family with...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-02, Vol.143A (4), p.360-363
Hauptverfasser:	Vreeburg, M., de Zwart‐Storm, E.A., Schouten, M.I., Nellen, R.G.L., Marcus‐Soekarman, D., Devies, M., van Geel, M., van Steensel, M.A.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult Biological and medical sciences connexin 43 Connexin 43 - genetics Dermatology DNA Mutational Analysis Dyskeratosis Eye Abnormalities - genetics Female gap junction Humans keratoderma Keratosis - genetics Keratosis - pathology Limb Deformities, Congenital - genetics Medical genetics Medical sciences oculo‐dento‐digital dysplasia Phenotype Sequence Deletion Skin Abnormalities - genetics Syndactyly - genetics Tooth Abnormalities - genetics
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