HOXC13基因的插入突变是导致伴有泪管阻塞的单纯毛发和指甲外胚层发育不良的原因。 - Suppr

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

作者信息

Humbatova A, Maroofian R, Romano M-T, Tafazzoli A, Behnam M, Dilaver N, Nouri N, Salehi M, Wolf S, Frank J, Kokordelis P, Betz R C

机构信息

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Institute of Genetic Resources, Azerbaijan, National Academy of Sciences, Baku, Azerbaijan.

出版信息

Br J Dermatol. 2018 Apr;178(4):e265-e267. doi: 10.1111/bjd.16276. Epub 2018 Feb 23.

DOI:10.1111/bjd.16276

PMID:29278420

Abstract

摘要

相似文献

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

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引用本文的文献

Homozygous Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Hum Mutat. 2024 Jul 1;2024:6420246. doi: 10.1155/2024/6420246. eCollection 2024.

Molecular Genetic Characteristics of the Gene and Association Analysis of Wool Traits.

Int J Mol Sci. 2024 Jan 27;25(3):1594. doi: 10.3390/ijms25031594.

Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review.

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相似文献

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

Br J Dermatol. 2018 Apr;178(4):e265-e267. doi: 10.1111/bjd.16276. Epub 2018 Feb 23.

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

Hum Mutat. 2013 Apr;34(4):578-81. doi: 10.1002/humu.22271. Epub 2013 Mar 5.

Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.

J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e458-e459. doi: 10.1111/jdv.15777. Epub 2019 Jul 19.

'Double trouble': diagnostic challenges in genetic skin disorders.

Br J Dermatol. 2015 Jan;172(1):276-8. doi: 10.1111/bjd.13159. Epub 2014 Dec 17.

Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families.

Br J Dermatol. 2013 Aug;169(2):478-80. doi: 10.1111/bjd.12302.

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11.

ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.

Int J Dermatol. 2019 Mar;58(3):e72-e75. doi: 10.1111/ijd.14359. Epub 2019 Jan 17.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y.

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.

Pediatr Dermatol. 2017 Mar;34(2):172-175. doi: 10.1111/pde.13074.

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Clin Exp Dermatol. 2017 Jul;42(5):585-589. doi: 10.1111/ced.13115. Epub 2017 May 22.

引用本文的文献

Homozygous Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Hum Mutat. 2024 Jul 1;2024:6420246. doi: 10.1155/2024/6420246. eCollection 2024.

Molecular Genetic Characteristics of the Gene and Association Analysis of Wool Traits.

Int J Mol Sci. 2024 Jan 27;25(3):1594. doi: 10.3390/ijms25031594.

Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review.

Int J Trichology. 2023 Mar-Apr;15(2):43-49. doi: 10.4103/ijt.ijt_70_22. Epub 2023 Jul 28.

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

作者信息

Humbatova A, Maroofian R, Romano M-T, Tafazzoli A, Behnam M, Dilaver N, Nouri N, Salehi M, Wolf S, Frank J, Kokordelis P, Betz R C

机构信息

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Institute of Genetic Resources, Azerbaijan, National Academy of Sciences, Baku, Azerbaijan.

出版信息

Br J Dermatol. 2018 Apr;178(4):e265-e267. doi: 10.1111/bjd.16276. Epub 2018 Feb 23.

DOI:10.1111/bjd.16276

PMID:29278420

Abstract

摘要

An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

作者信息

机构信息

出版信息

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An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.

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