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A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness  Chester W. Brown, Moise L. Levy, Catherine.

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Presentation on theme: "A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness  Chester W. Brown, Moise L. Levy, Catherine."— Presentation transcript:

1 A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness  Chester W. Brown, Moise L. Levy, Catherine M. Flaitz, Barbara S. Reid, Spiros Manolidis, Adelaide A. Hebert, Matthew M. Bender, Heidi A. Heilstedt, Katie S. Plunkett, Ping Fang, Benjamin B. Roa, Pil Chung, Hsiao-Yuan Tang, Gabriele Richard, Raye L. Alford  Journal of Investigative Dermatology  Volume 121, Issue 5, Pages (November 2003) DOI: /j _4.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical and histologic findings. (A) Psoriasiform dermatitis occurring as scaly erythematous plaques on the trunk and diaper area. (B) Gingiva, showing multiple large dental lamina cysts. (C) Generalized erythema of the oral mucosa with focal ulceration and adherent white plaques. Journal of Investigative Dermatology  , DOI: ( /j _4.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 DNA sequence analysis of GJB2. The heterozygous 424T>C transition is indicated by the arrow. The nucleotide sequence is provided, just above the electropherograph. The amino acid sequence, indicating the heterozygous amino acid substitution (F/L), is shown above the nucleotide sequence. Position F142 is noted. Journal of Investigative Dermatology  , DOI: ( /j _4.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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