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An atypical case of incontinentia pigmenti with a hypomorphic variant
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作者:

Guo, Youming
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China

Bu, Wenbo
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China

Jia, Weixue
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China

Zhang, Yuanyuan
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China

Li, Chengrang
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China
机构:
[1] Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China
关键词:
genetic disease;
hypomorphic mutation;
incontinentia pigmenti;
rare disease;
ECTODERMAL DYSPLASIA;
IMMUNODEFICIENCY;
D O I:
10.1111/pde.15456
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males.
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页码:351 / 353
页数:3
相关论文
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Rabia, SH
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Headon, DJ
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Overbeek, PA
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Le Deist, F
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Fischer, A
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Shapiro, R
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Conley, ME
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Reimund, E
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h-index: 0
机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Kalhoff, H
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Abinun, M
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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

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机构: Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France

Casanova, JL
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Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France Fac Med Necker Enfants Malades, Lab Genet Humaine Malad Infect, Paris, France
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Ctr Invest & Estudios Avanzados IPN, Dept Biomed Mol, Ciudad Mexico 07360, Mexico Ctr Invest & Estudios Avanzados IPN, Dept Biomed Mol, Ciudad Mexico 07360, Mexico