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ENPachyonychia Congenita 1 (PC1)
Alias:
Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita, Jadassohn-Lewandowsky Type
Pachyonychia Congenita Syndrome
Pachyonychia Congenita, Type 1
Pc1
Pc
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita Jadassohn-Lewandowsky Type
Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Jackson-Lawler Type
Pachyonychia Congenita Jackson Lawler Type
Jadassohn-Lewandowsky Syndrome, Formerly
Jadassohn-Lewandowski Syndrome
Pachyonychia Congenita, Type 2
Pachyonychia Congenita Type 1
Congenital Pachyonychia
Jackson-Lawler Syndrome
Pc-1
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Pachyonychia Congenita 1, also known as pachyonychia congenita, is related to pachyonychia congenita 2 and ectodermal dysplasia, and has symptoms including hoarseness An important gene associated with Pachyonychia Congenita 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin and tongue, and related phenotypes are palmoplantar keratoderma and nail dystrophy
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