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    1. Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix 2019
    2. Mutation analysis of type II hair keratin gene in a pedigree with monilethrix Chinese Journal of Dermatology · 2010
    3. 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene Journal of Investigative Dermatology · 2022
    4. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis Annals of Neurology · 2001 · 43 citations
    5. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    6. Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia Scientific reports · 2017 · 6 citations
    7. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    8. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations
    9. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    10. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. PubMed · 2008 · 2 citations
    11. Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles International Journal of Molecular Sciences · 2020 · 10 citations
    12. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    13. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    14. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    15. Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families ˜The œjournal of gene medicine · 2020 · 3 citations
    16. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations
    17. Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome Dermatology · 2014 · 11 citations
    18. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    19. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    20. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    21. Association analysis of polymorphisms in six keratin genes with wool traits in sheep Asian-Australasian journal of animal sciences · 2017 · 17 citations
    22. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    23. Clonal analysis of stem cells in differentiation and disease Current Opinion in Cell Biology · 2016 · 11 citations
    24. Functional analysis of vitamin D receptor (VDR) using adenovirus vector 2023 · 4 citations
    25. Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination Frontiers in Genetics · 2025 · 2 citations
    26. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    27. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    28. Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague Proceedings of The Japanese Society of Animal Models for Human Diseases · 2002
    29. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status European journal of endocrinology · 1999 · 19 citations
    30. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations