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    Research 271–300 of 1000+

    1. Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH) Journal of pediatric nursing · 2011
    2. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay PLoS Genetics · 2018 · 21 citations
    3. Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia The Journal of Dermatology · 2019 · 2 citations
    4. Alopecia triangularis congenita in combination with androgenetic alopecia Journal of The European Academy of Dermatology and Venereology · 2004 · 1 citations
    5. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    6. Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism American Journal of Case Reports · 2025
    7. Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome Journal of Dermatological Science · 2016
    8. 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
    9. Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia Journal of dermatology · 2011
    10. AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS Pediatric Research · 1977
    11. 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
    12. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    13. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
    14. 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
    15. Hereditary, Congenital, and Acquired Alopecias Elsevier eBooks · 2011
    16. Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia Pediatric Research · 1981
    17. Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007 · 46 citations
    18. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    19. BENEFÍCIOS DO USO DA TOMOGRAFIA COMPUTADORIZADA NO DIAGNÓSTICO DE POSSÍVEL MICROCEFALIA DEVIDO À INFECÇÃO CONGÊNITA PELO ZIKA VÍRUS Amplla Editora eBooks · 2022
    20. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    21. Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia 2022 · 1 citations
    22. 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia 2021 · 1 citations
    23. Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in <i>FoxD1</i>-lineage mesenchymal cells leads to congenital truncal alopecia bioRxiv (Cold Spring Harbor Laboratory) · 2021
    24. [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme]. PubMed · 1962
    25. Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ<sup>5</sup>-Δ<sup>4</sup>-lsomerase in Human Adrenals and Gonads Molecular Endocrinology · 1991 · 354 citations
    26. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    27. Molecular and functional aspects of the hairless (<i>hr</i>) gene in laboratory rodents and humans Experimental Dermatology · 1998 · 126 citations
    28. Structural abnormalities of the hair shaft Journal of The American Academy of Dermatology · 1987 · 126 citations
    29. Hypertrichosis Journal of the American Academy of Dermatology · 2003 · 125 citations
    30. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations