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    1. Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz Acta dermato-venereologica · 2020
    2. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    3. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    4. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · 2024
    5. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    6. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    7. Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency Dermatology Reports · 2023
    8. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    9. Clomiphene Citrate versus Letrozole for Ovulation Induction in PCOS: A Comparative Study Journal of South Asian Federation of Obstetrics and Gynaecology · 2018 · 3 citations
    10. Androgen Biosynthesis and Gene Defects Elsevier eBooks · 2014
    11. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    12. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    13. Ptosis in childhood Medicine · 2018 · 15 citations
    14. PA33 When bones speak through nails: insights from a paediatric case series British Journal of Dermatology · 2025
    15. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    16. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    17. 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
    18. Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple Indian Dermatology Online Journal · 2026
    19. A Hairy Paradox: Congenital Triangular Alopecia with a Central Hair Tuft Dermatology · 2010 · 14 citations
    20. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    21. A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome Journal of Dermatological Science · 2016
    22. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    23. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    24. 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
    25. 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies Journal of Investigative Dermatology · 2017
    26. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    27. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    28. From the Elephant Man to Barbie Girl: Dissecting the Freak from the Margins to the Mainstream 2020
    29. Polarized microscopy in genetic hair disorders: case series 2025
    30. Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant Archives of Pathology & Laboratory Medicine · 2004 · 9 citations