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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
    11. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    12. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    13. Adams–Oliver syndrome: new evidence in variable expressivity? International Journal of Dermatology · 2013
    14. Hair Loss in Children Elsevier eBooks · 2018
    15. Le gène<i>hairless</i>de la souris 2006 · 4 citations
    16. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    17. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    18. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    19. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    20. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    21. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    22. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    23. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    24. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    25. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    26. 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies Journal of Investigative Dermatology · 2017
    27. FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches Journal of clinical immunology · 2017 · 33 citations
    28. Multiple congenital smooth muscle hamartoma: A case report Dermatologica Sinica · 2024
    29. Platelet-rich Plasma Injection and Lipofilling-assisted Hair Transplantation on Residual Scalp Alopecia Post Aplasia Cutis Congenita Verticis (ACCV) International Journal of Trichology · 2025
    30. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations