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    Research 31–60 of 227

    1. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    2. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    3. Ichthyosiform Rash and Fever in a Child Archives of Dermatology · 1993 · 22 citations
    4. Extensive Ichthyosiform Sarcoidosis in a Patient With Juvenile Rheumatoid Arthritis Archives of Dermatology · 1985 · 6 citations
    5. Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity Pediatrics in review · 2021
    6. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    7. Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia Journal of dermatology · 2011
    8. [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme]. PubMed · 1962
    9. Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation Molecular and cellular biology · 2002 · 108 citations
    10. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    11. Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair 1996 · 36 citations
    12. Sarcoidosis: Are there differences in your skin of color patients? Journal of the American Academy of Dermatology · 2011 · 34 citations
    13. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    14. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    15. Recurrent bacterial vaginosis and Netherton's syndrome International Journal of STD & AIDS · 1999 · 4 citations
    16. [The Netherton syndrome with alopecia and prolinuria]. PubMed · 1978 · 4 citations
    17. Improvement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream Acta Dermato Venereologica · 2024 · 2 citations
    18. The role of Glucosylceramides in Keratinocyte Differentiation and Epidermal Barrier Function 2013 · 1 citations
    19. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    20. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    21. Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis European Journal of Dermatology · 2019 · 3 citations
    22. Disorders of Keratinization 2014
    23. KERATINS AND SKIN DISORDERS Cell biology international · 1996 · 28 citations
    24. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    25. Ichthyosis with confetti: a rare diagnosis and treatment plan BMJ case reports · 2014 · 7 citations
    26. A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report Journal of Paediatrics and Child Health · 2025
    27. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    28. Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome Indian Journal of Paediatric Dermatology · 2025
    29. Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study Вопросы современной педиатрии · 2025
    30. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations