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    1. Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family Anais Brasileiros de Dermatologia · 2024
    2. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome International Journal of Molecular Medicine · 2013 · 20 citations
    3. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    4. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    5. Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria International Journal of Clinical Obstetrics and Gynaecology · 2025
    6. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    7. Buschke-Ollendorff syndrome British Journal of Dermatology · 2016 · 1 citations
    8. Loose Anagen Syndrome 2019
    9. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    10. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    11. Alopecia in a 19-Month-Old Boy Archives of dermatology · 1994 · 2 citations
    12. Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children Archives of Dermatology · 1992 · 55 citations
    13. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    14. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    15. Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento Brazilian Journal of Health Review · 2024
    16. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    17. Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding Genes · 2025
    18. Treatment of monilethrix with oral minoxidil JAAD case reports · 2016 · 37 citations
    19. Diagnostic approach to low‐renin hypertension Clinical Endocrinology · 2018 · 29 citations
    20. Dermatomyositis Disease in Dogs International journal of zoology and animal biology · 2022
    21. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    22. Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness 2021
    23. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    24. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    25. Gentamicin-loaded exosomes from IMMUNEPOTENT CRP enhance healing of infected diabetic wound in mice Frontiers in Pharmacology · 2025
    26. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    27. Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up Frontiers in Endocrinology · 2026
    28. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    29. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    30. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025