X-linked dominant inheritance in palmoplantar keratoderma with leukokeratosis: a study of the pedigree of two cases.

Sharma PK; Rath N; Chauhan R; Sharma SK; Kar HK

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X-linked dominant inheritance in palmoplantar keratoderma with leukokeratosis: a study of the pedigree of two cases.

机译：X连锁的掌palm角化病伴白角化病的显性遗传：两个案例的谱系研究。

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Keratoderma of the palms and soles is not of rare occurrence. Its association with leukokeratosis of the mouth is well recognized. We describe two siblings having callosities like keratoderma over the weight bearing areas of soles, pressure areas of palms and palmar creases with leukokeratosis of cheeks. On study of the pedigree of these probands we could trace the trait transmission by a rare X-linked dominant mechanism.

机译：手掌和脚掌的角质病并非罕见。它与口角白斑病的关系是众所周知的。我们描述了两个兄弟姐妹，它们在脚掌的承重区域，手掌的压力区域和手掌的皱纹与脸颊白化病之间具有角质病。在研究这些先证者的血统书时，我们可以通过罕见的X连锁显性机制来追踪特质传播。

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《The Journal of dermatology》 |2003年第11期|共6页
作者
Sharma PK; Rath N; Chauhan R; Sharma SK; Kar HK;
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正文语种 eng
中图分类皮肤病学与性病学;
关键词
X-linked inheritance; Pedigree; dominant inheritance; Mouth; Proband; 系谱; 口腔;

机译：X-linked inheritance;Pedigree;dominant inheritance;Mouth;Proband;系谱;口腔;

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1. X-linked dominant inheritance in palmoplantar keratoderma with leukokeratosis: a study of the pedigree of two cases. [J] . Sharma PK, Rath N, Chauhan R, The Journal of dermatology . 2003,第11期

机译：X连锁的掌palm角化病伴白角化病的显性遗传：两个案例的谱系研究。
2. G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma [J] . Babanejad Mojgan, Zarandy Masoud Motasaddi, Nikzat Nooshin, International journal of pediatric otorhinolaryngology . 2019,第期

机译：G130V de Novo突变在伊朗谱系中的非正式听力损失，没有棕榈叶胸蛋白
3. Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma [J] . Changxing Li, Pingjiao Chen, Silong Sun, Molecular Genetics & Genomic Medicine . 2019,第7期

机译：Exome测序鉴定了中国谱系中的KRT9致病变体，其与表皮水解牛腭角膜蛋白
4. Diffuse transgrecliens palmoplantar keratoderma (mal de meleda) [C] . Benea V., Georgescu S.-R., Hie A.-E., International Congress of Dermatology . 2009

机译：Diffuse Transgrecliens Palmoplanta Keratoderma（Meleda Mala）
5. Genetic alterations to Cx26 causing palmoplantar keratoderma and hearing loss modify Cx43 channel behavior [D] . Shuja, Zunaira 2015

机译：对Cx26的遗传改变导致掌角化病和听力损失会改变Cx43通道的行为
6. Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma [O] . Changxing Li, Pingjiao Chen, Silong Sun, 2019

机译：外显子组测序在中国谱系中与表皮松解性掌plant角化病皮一起鉴定出KRT9致病变异
7. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation [O] . Kobayashi Setsu, Tanaka Toshihiro, Matsuyoshi Norihisa, 1996

机译：角蛋白9点突变在表皮遗传性掌plant角化皮病的家系中干扰角蛋白中间丝网络的形成

X-linked dominant inheritance in palmoplantar keratoderma with leukokeratosis: a study of the pedigree of two cases.

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