Search
for

    Sort by

    Research 30 of 1000+

    1. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    2. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    3. Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. Journal of Medical Genetics · 1989 · 27 citations
    4. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    5. Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system Andrology · 2024
    6. Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency Molecular and Cellular Biology · 2004 · 75 citations
    7. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    8. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    9. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    10. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    11. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    12. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    13. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    14. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    15. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    16. Treatment of scleromyxoedema with hydroxychloroquine Journal der Deutschen Dermatologischen Gesellschaft · 2003 · 10 citations
    17. Hereditary, Congenital, and Acquired Alopecias Elsevier eBooks · 2006 · 1 citations
    18. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    19. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    20. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    21. Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention Photodermatology Photoimmunology & Photomedicine · 2020 · 6 citations
    22. Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases International Journal of Molecular Sciences · 2022 · 6 citations
    23. The Roles of EDA2R in Ageing and Disease Aging Cell · 2025 · 1 citations
    24. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    25. STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone Cell calcium · 2019 · 9 citations
    26. Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways Preprints.org · 2025
    27. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    28. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation Nature genetics · 2000 · 694 citations
    29. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    30. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations