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    Glossary Birth Defects

    structural or functional abnormalities present at birth

    Birth defects, also known as congenital disorders or congenital anomalies, are structural or functional abnormalities that occur during intrauterine development. These defects can affect various parts of the body, including the heart, brain, or limbs, and can result from genetic factors, environmental exposures, or a combination of both. They can range from minor issues that may not require treatment to severe conditions that can significantly impact a person's quality of life or even be life-threatening.

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    1. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    2. Action of isotretinoin in acne rosacea and gram-negative folliculitis Journal of The American Academy of Dermatology · 1982 · 175 citations
    3. The pharmacology of methotrexate Journal of The American Academy of Dermatology · 1991 · 155 citations
    4. British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology British Journal of Dermatology · 2010 · 136 citations
    5. Oral retinoids-present status British Journal of Dermatology · 1980 · 108 citations
    6. Adverse Effects and Safety of 5-alpha Reductase Inhibitors (Finasteride, Dutasteride): A Systematic Review. PubMed · 2016 · 32 citations
    7. Mechanism of Action of Isotretinoin CRC Press eBooks · 2019 · 3 citations
    8. Contraindicated use of 5-alpha-reductase inhibitors in women British Journal of Clinical Pharmacology · 2016 · 2 citations
    9. Getting to grips with hair loss Inpharma Weekly · 1997 · 1 citations
    10. MULTISYSTEM ADVERSE EFFECTS OF ISOTRETINOIN: MECHANISTIC INSIGHTS AND CLINICAL IMPLICATIONS International Journal of Innovative Technologies in Social Science · 2026
    11. Beyond Clinical Efficacy: A Literature Review on the Safety Challenges of Isotretinoin Therapy Quality in Sport · 2026
    12. Evaluating 5 alpha reductase inhibitors for the treatment of male androgenic alopecia Expert Opinion on Pharmacotherapy · 2023
    13. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    14. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis 2012 · 47 citations
    15. Depression from a physical symptom. The BMJ · 1971
    16. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    17. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    18. Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes Diabetes · 2011 · 53 citations
    19. Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin 2010 · 46 citations
    20. Ulerythema Ophryogenes Archives of Dermatology · 1964 · 23 citations
    21. Canestick Lesion of Vellus Hair in Netherton's Syndrome Archives of Dermatology · 1985 · 9 citations
    22. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    23. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    24. Contraceptive use in acne Clinics in Dermatology · 2014 · 21 citations
    25. Irregular Menstruation, Acne, Hirsutism, and the Possibility with PCOS International journal of medical science and clinical invention · 2022
    26. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    27. “THE EFFECT OF CYPROTERONE ACETATE AND ETHINYLESTRADIOL COMBINATION ON HYPERANDROGENIC AND OTHER SYMPTOMS IN PCOS” GLOBAL JOURNAL FOR RESEARCH ANALYSIS · 2021
    28. Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening Journal of pediatric nursing · 2013
    29. Adverse Reactions to Oral Retinoids An Update Drug Safety · 1993 · 53 citations
    30. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control Experimental dermatology · 2005 · 20 citations