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    Research 271–300 of 1000+

    1. Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations Journal of cosmetic dermatology · 2022
    2. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    3. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    4. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    5. Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis 2012
    6. AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS Pediatric Research · 1977
    7. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    8. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    9. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    10. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    11. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    12. Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix International Journal of Dermatology · 2015 · 8 citations
    13. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    14. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    15. Androgenetic alopecia: An autosomal dominant disorder The American Journal of Medicine · 1995 · 80 citations
    16. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    17. Interventions for preventing the progression of autosomal dominant polycystic kidney disease Cochrane Database of Systematic Reviews · 2024 · 8 citations
    18. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    19. Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis Pediatric dermatology · 2011 · 2 citations
    20. Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome 2025
    21. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    22. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome International Journal of Molecular Medicine · 2013 · 20 citations
    23. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    24. Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study Journal of Tissue Viability · 2020 · 7 citations
    25. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    26. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    27. Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2020
    28. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    29. The inheritance of common baldness: Two B or not two B ? Journal of the American Academy of Dermatology · 1984 · 203 citations
    30. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations