Similar articles for PMID: 9736769

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1

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nöthen MM. Cichon S, et al. Hum Mol Genet. 1998 Oct;7(11):1671-9. doi: 10.1093/hmg/7.11.1671. Hum Mol Genet. 1998. PMID: 9736769

2

Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.

Segovia JC, Lin YC, Aala W, Dolendo MCJ, McGrath JA, Hsu CK, Guevara BEK. Segovia JC, et al. Clin Exp Dermatol. 2023 Apr 27;48(5):536-538. doi: 10.1093/ced/llad005. Clin Exp Dermatol. 2023. PMID: 36757922 No abstract available.

3

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Irum B, Kabir F, Shoshany N, Khan SY, Rauf B, Naeem MA, Qaiser TA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Irum B, et al. Hum Genome Var. 2022 Sep 8;9(1):31. doi: 10.1038/s41439-022-00208-7. Hum Genome Var. 2022. PMID: 36075891 Free PMC article.

4

Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation.

Xiao TL, Rosenblatt AE. Xiao TL, et al. Pediatr Dermatol. 2022 Nov;39(6):997-999. doi: 10.1111/pde.15064. Epub 2022 Jul 13. Pediatr Dermatol. 2022. PMID: 35830358 Free PMC article.

5

A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.

Ruan Y, Zhao Q, Liu Q, Zhao HY, Zhang ZY, Ding Y, Zhao XD. Ruan Y, et al. World J Pediatr. 2022 Apr;18(4):294-299. doi: 10.1007/s12519-021-00503-3. Epub 2022 Feb 14. World J Pediatr. 2022. PMID: 35157248 No abstract available.

6

[A case of KRT74 variation induced hair loss].

Zhang YY, Zhang Y, Tang XM. Zhang YY, et al. Zhonghua Er Ke Za Zhi. 2021 Dec 2;59(12):1086-1087. doi: 10.3760/cma.j.cn112140-20210510-00404. Zhonghua Er Ke Za Zhi. 2021. PMID: 34856669 Chinese.

7

Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report.

Heidary H, Mardi A, Mousavi SM, Khazaie G, Golab F. Heidary H, et al. Iran J Public Health. 2021 Jun;50(6):1275-1279. doi: 10.18502/ijph.v50i6.6429. Iran J Public Health. 2021. PMID: 34540749 Free PMC article.

8

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA. Muzammal M, et al. Ann Hum Genet. 2021 Sep;85(5):147-154. doi: 10.1111/ahg.12425. Epub 2021 Apr 21. Ann Hum Genet. 2021. PMID: 33881165 Review.

9

Congenital atrichia with papular lesions.

Hajare SA, Gavali S, Mukhi J, Singh RP. Hajare SA, et al. Dermatol Online J. 2020 Apr 15;26(4):13030/qt5631x9sh. Dermatol Online J. 2020. PMID: 32621683 Free article.

10

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

Ali G, Awan NB, Sadia, Khawaja AW, Foo JN, Khor CC, Chang CH, Chew EG, Kiani FR, Jelani M. Ali G, et al. J Gene Med. 2020 May;22(5):e3167. doi: 10.1002/jgm.3167. Epub 2020 Feb 17. J Gene Med. 2020. PMID: 32020700

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