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    1. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    2. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    3. 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
    4. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    5. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    6. Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency Dermatology Reports · 2023
    7. Clomiphene Citrate versus Letrozole for Ovulation Induction in PCOS: A Comparative Study Journal of South Asian Federation of Obstetrics and Gynaecology · 2018 · 3 citations
    8. Androgen Biosynthesis and Gene Defects Elsevier eBooks · 2014
    9. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    10. Ptosis in childhood Medicine · 2018 · 15 citations
    11. PA33 When bones speak through nails: insights from a paediatric case series British Journal of Dermatology · 2025
    12. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    13. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    14. 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
    15. 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
    16. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    17. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    18. 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
    19. 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies Journal of Investigative Dermatology · 2017
    20. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    21. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    22. From the Elephant Man to Barbie Girl: Dissecting the Freak from the Margins to the Mainstream 2020
    23. Polarized microscopy in genetic hair disorders: case series 2025
    24. Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant Archives of Pathology & Laboratory Medicine · 2004 · 9 citations
    25. DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA Balkan Journal of Medical Genetics · 2013 · 3 citations
    26. Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system Andrology · 2024
    27. Pesticides Exposure and Risk of Hypospadias InTech eBooks · 2011
    28. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    29. Abstracts Congenital Anomalies · 2016 · 1 citations
    30. Breast Embryology, Anatomy, and Physiology Springer eBooks · 2017 · 3 citations