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    1. 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
    2. A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters 2012
    3. Sexual function in women with androgen excess disorders: classic forms of congenital adrenal hyperplasia and polycystic ovary syndrome Journal of Endocrinological Investigation · 2020 · 5 citations
    4. A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome Journal of Dermatological Science · 2016
    5. Poikiloderma congenitale-an early case of rothmund-thomson's syndrome Acta dermato-venereologica · 1975 · 7 citations
    6. Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother SAGE Open Medical Case Reports · 2024
    7. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    8. Poikiloderma congenitale-an early case of rothmund-thomson's syndrome. Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) · 1975 · 9 citations
    9. Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia) Journal für Kardiologie (Krause & Pachernegg GmbH) · 2010 · 8 citations
    10. Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia British Journal of Dermatology · 2007 · 17 citations
    11. Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH) Journal of pediatric nursing · 2011
    12. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    13. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    14. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    15. 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
    16. 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
    17. Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome Journal of Dermatological Science · 2016
    18. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    19. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    20. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    21. Acne-Associated Syndromes Springer eBooks · 2019
    22. ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS Journal of the Endocrine Society · 2022
    23. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    24. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    25. Diagnostic Criteria for Polycystic Ovarian Syndrome Endocrine journal · 2006 · 45 citations
    26. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) Clinical Genetics · 1998 · 28 citations
    27. <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Journal of dermatology · 2020 · 9 citations
    28. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    29. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    30. Clinical Presentation of Polycystic Ovary Syndrome BENTHAM SCIENCE PUBLISHERS eBooks · 2025