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7 Possible Causes for Mutation in the Keratin 6C Gene

  • Congenital Clubbing

    […] in genes encoding five differentiation-specific keratins: 6A, 6B, 6C, 16, and 17.[karger.com] There are two types of pachyonychia congenita: type 1, also known as Jadassohn-Lewandowsky syndrome, and type 2, also known as Jackson-Lawler syndrome; they are linked to mutations[karger.com]

  • Pachyonychia Congenita

    gene mutations have been described in the 5 keratin genes, KRT6A (OMIM 148041 ), KRT6B (OMIM 148042 ), KRT6C (OMIM 612315 ), KRT16 (OMIM 148067 ), and KRT17 (OMIM 148069[jamanetwork.com] […] dystrophy, painful focal palmoplantar keratoderma, follicular keratoses, mucosal leukokeratoses, hoarse voice, cystic lesions, and, rarely, natal teeth. 2 , 3 Underlying keratin[jamanetwork.com] ), which alter keratins 6a, 6b, 6c, 16, and 17, respectively. 4 - 9 These genes are expressed in the nail bed, palmoplantar epidermis, and mucosa.[jamanetwork.com]

  • Congenital Leukonychia

    […] in genes encoding five differentiation-specific keratins: 6A, 6B, 6C, 16, and 17.[karger.com] There are two types of pachyonychia congenita: type 1, also known as Jadassohn-Lewandowsky syndrome, and type 2, also known as Jackson-Lawler syndrome; they are linked to mutations[karger.com]

  • Anonychia Congenita Totalis

    […] in genes encoding five differentiation-specific keratins: 6A, 6B, 6C, 16, and 17.[karger.com] There are two types of pachyonychia congenita: type 1, also known as Jadassohn-Lewandowsky syndrome, and type 2, also known as Jackson-Lawler syndrome; they are linked to mutations[karger.com]

  • Pachyonychia Congenita

    gene mutations have been described in the 5 keratin genes, KRT6A (OMIM 148041 ), KRT6B (OMIM 148042 ), KRT6C (OMIM 612315 ), KRT16 (OMIM 148067 ), and KRT17 (OMIM 148069[jamanetwork.com] ), which alter keratins 6a, 6b, 6c, 16, and 17, respectively. 4 - 9 These genes are expressed in the nail bed, palmoplantar epidermis, and mucosa.[jamanetwork.com] Mutations in these 5 keratin genes cause epidermolysis and compensatory hyperkeratosis at these sites.[jamanetwork.com]

  • Thost-Unna Palmoplantar Keratoderma

    It is related to the mutations of the KRT6c and KRT16 genes that encode keratin 6c and keratin 16 respectively.[podiatrytoday.com]

  • Pachyonychia Congenita, Type 2

    gene mutations have been described in the 5 keratin genes, KRT6A (OMIM 148041 ), KRT6B (OMIM 148042 ), KRT6C (OMIM 612315 ), KRT16 (OMIM 148067 ), and KRT17 (OMIM 148069[jamanetwork.com] ), which alter keratins 6a, 6b, 6c, 16, and 17, respectively. 4 - 9 These genes are expressed in the nail bed, palmoplantar epidermis, and mucosa.[jamanetwork.com] Mutations in these 5 keratin genes cause epidermolysis and compensatory hyperkeratosis at these sites.[jamanetwork.com]

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