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    Did you mean Genotype-Phenotype Correlations?
    Glossary Genotype-Phenotype Correlations

    relationship between genes and observable traits

    Genotype-Phenotype Correlations refer to the relationship between an individual's genetic makeup (genotype) and their observable traits (phenotype). For example, in the context of hair, certain genotypes might be linked to traits like hair color, texture, or susceptibility to conditions like alopecia. Understanding these correlations helps scientists predict how genetic variations can manifest as physical characteristics or health conditions.

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    1. 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
    2. Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications Journal of Genome Biotechnology and Genetics · 2026
    3. Letter from Brisbane [Letters to editor] Journal of Human Genetics · 2011
    4. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    5. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    6. Interactions between epidermal growth factor and the <i>Tabby</i> mutation in skin Experimental Dermatology · 1998 · 6 citations
    7. Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds BMC Veterinary Research · 2021 · 55 citations
    8. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    9. Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype Developmental Dynamics · 1999 · 52 citations
    10. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    11. A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women Clinical Cosmetic and Investigational Dermatology · 2022 · 5 citations
    12. Relationship of Early-Onset Baldness to Prostate Cancer in African-American Men Cancer Epidemiology, Biomarkers & Prevention · 2013 · 21 citations
    13. HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond Endocrinology · 2019 · 30 citations
    14. Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis Journal of The American Academy of Dermatology · 2014 · 3 citations
    15. Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes Genetics Research · 1985 · 7 citations
    16. The relationship among androgens, insulin resistanceand ghrelin polymorphisms in post-adolescent malepatients with severe acne vulgaris Advances in Dermatology and Allergology · 2020 · 10 citations
    17. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes Animals · 2024 · 4 citations
    18. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    19. Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome International journal of reproduction, contraception, obstetrics and gynecology · 2016 · 4 citations
    20. Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome The Journal of Clinical Endocrinology & Metabolism · 2002 · 27 citations
    21. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    22. The Trotter collection: A review of Mildred Trotter's hair research and an update for studies of human variation American Journal of Biological Anthropology · 2024
    23. Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance Journal of Assisted Reproduction and Genetics · 2016 · 12 citations
    24. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    25. The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome Medicina · 2024
    26. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    27. Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization) Journal of The European Academy of Dermatology and Venereology · 2004 · 22 citations
    28. Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss Egyptian Journal of Dermatology and Venerology · 2025
    29. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    30. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026