A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism-Reference-Cited by-同舟云学术

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism

Published:2018-09-16 Issue:1 Volume:44 Page:78-79
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Ohyama A.¹,Nakano H.²,Imanishi Y.³,Seto T.⁴,Tsuruta D.¹,Fukai K.¹⁵

Affiliation:

1. Department of Dermatology; Osaka City University Graduate School of Medicine; Osaka Japan

2. Department of Dermatology; Hirosaki University Graduate School of Medicine; Hirosaki Japan

3. Department of Metabolism, Endocrinology and Molecular Medicine; Osaka City University Graduate School of Medicine; Osaka Japan

4. Department of Pediatrics; Osaka City University Graduate School of Medicine; Osaka Japan

5. Department of Dermatology; Osaka City General Hospital; Osaka Japan

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13741/fullpdf

Reference5 articles.

1. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation;Steensel;Am J Med Genet A,2008

2. Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis;Traupe;Dermatologica,1986

3. Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis;Hosomi;Int J Dermatol,2008

4. Enzymatic activities of human lymphocyte arylsufatase C (in Japanese, abstract in English);Tagi;J Osaka City Med C,1988

5. Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum;Oyama;J Eur Acad Dermatol Venereol,2016

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2. Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping;Journal of Assisted Reproduction and Genetics;2023-05-08

3. X‐linked ichthyosis: New insights into a multi‐system disorder;Skin Health and Disease;2022-10-17

4. X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion;Pediatric Neurology;2020-07

5. X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations;Journal of Clinical Laboratory Analysis;2020-01-16