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    1. Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia The Journal of Dermatology · 2019 · 2 citations
    2. Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker Australasian Journal of Dermatology · 2019 · 7 citations
    3. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    4. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations
    5. Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy Journal of Pediatric Gastroenterology and Nutrition · 2009 · 26 citations
    6. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    7. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    8. Hirsutism causes and treatments. PubMed · 1991 · 8 citations
    9. Adrenal causes of endocrine hypertension in childhood or adolescence Journal of Endocrinological Investigation · 2025
    10. Pathogenesis and causes of hirsutism 2006 · 1 citations
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