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    Glossary Genetic Counseling

    process of advising on inherited health risks and conditions

    Genetic counseling is a process where individuals or families receive guidance from healthcare professionals about the genetic aspects of health conditions. This includes understanding the risk of inherited disorders, interpreting genetic test results, and discussing potential implications for family planning and medical management. It is particularly useful for conditions like alopecia, where genetic factors may play a significant role.

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    1. [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content]. PubMed · 1988 · 3 citations
    2. Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles Journal of Genetic Counseling · 2020 · 17 citations
    3. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy Medical Entomology and Zoology · 1989 · 179 citations
    4. Fertility counseling and preservation: considerations for the pediatric endocrinologist Translational pediatrics · 2017 · 9 citations
    5. Perspectives of Kennedy's disease Journal of the Neurological Sciences · 2010 · 65 citations
    6. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update Steroids · 2011 · 56 citations
    7. Optimal Management of Hair Loss (Alopecia) in Children American Journal of Clinical Dermatology · 2003 · 49 citations
    8. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    9. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    10. Management of CAH during pregnancy Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 29 citations
    11. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    12. 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
    13. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    14. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    15. Cutaneous Manifestations of Mucopolysaccharidoses Pediatric dermatology · 2016 · 8 citations
    16. 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
    17. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy Case reports in endocrinology · 2015 · 1 citations
    18. Case Report: Androgen-secreting pediatric adrenocortical tumor of uncertain malignant potential presenting with virilization in a 19-month-old girl Frontiers in Endocrinology · 2026
    19. Alopecia Areata in a Pediatric Patient with Delayed Maternal Manifestation: A Case Report Research Square · 2026
    20. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    21. Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review Clinical Medicine Insights Case Reports · 2025
    22. Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature Pediatric dermatology · 2011
    23. Cómo hacer que dos más dos sumen cinco Más dermatología · 2007
    24. Muir-torre syndrome in two families in Leicestershire, United Kingdom Journal of the American Academy of Dermatology · 2005
    25. Experience in the Treatment of Androgenetic Alopecia Based on the Theory of “The Heart Manifesting Its Function on the Exterior” Traditional Chinese Medicine · 2025
    26. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    27. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    28. Genetics of Vitiligo: A Review Clinical Cosmetic and Investigational Dermatology · 2026
    29. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    30. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations