Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping-Reference-Cited by-同舟云学术

Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping

Published:2023-05-08 Issue:7 Volume:40 Page:1735-1746
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Yang Jingya,Shi Hao,Niu Wenbin,Bao Xiao,Liu Han,Chen Chuanju,Jin Haixia,Song Wenyan,Sun Yingpu^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-023-02812-0.pdf

Reference38 articles.

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2. Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci. 1979;76(11):5779–83.

3. Koppe G, Marinković-Ilsen A, Rijken Y, De Groot WP, Jöbsis AC. X-linked icthyosis. A sulphatase deficiency. Arch Dis Child. 1978;53(10):803–6.

4. Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet (London, England). 1978;1(8055):8070–2.

5. Pinkova B, Buckova H, Borska R, Fajkusova L. Types of congenital nonsyndromic ichthyoses. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020;164(4):357–65.