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    1. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    2. Ptosis in childhood Medicine · 2018 · 15 citations
    3. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    4. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    5. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations
    6. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    7. Pallister-Killian Syndrome NeoReviews · 2024
    8. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    9. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    10. Trichoscopy of aplasia cutis congenita of the scalp in skin of color Journal of Cosmetic Dermatology · 2023
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