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Journal Abstract Search

172 related items for PubMed ID: 26885695

  • 21. Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation.
    Rishi E, Goel S, Bassi S, Rishi P.
    Nepal J Ophthalmol; 2022 Jan; 14(27):168-172. PubMed ID: 35996915
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  • 26. CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation.
    Karti O, Abali S, Ayhan Z, Gokmeydan E, Nalcaci S, Yaman A, Saatci AO.
    Am J Ophthalmol Case Rep; 2017 Sep; 7():129-133. PubMed ID: 29260097
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  • 27. Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
    Liu Y, Xu Z, Sun Y, Zhang B, Wang X, Ma L.
    Australas J Dermatol; 2024 Feb; 65(1):91-94. PubMed ID: 37850495
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  • 28. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
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  • 30. Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.
    Schauren JS, Torres ACMBG, de Almeida RC, Santos PSC, Mulinari-Brenner F, Lima LH, Zago Filho LA, Shiokawa N, Bicalho MDG, Sato MT.
    Clin Genet; 2020 Mar; 97(3):529-531. PubMed ID: 31696509
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  • 31. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.
    Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890
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  • 32. [Familial juvenile macular dystrophy with congenital hypotrichosis capitis].
    Becker M, Rohrschneider K, Tilgen W, Weber BH, Völcker HE.
    Ophthalmologe; 1998 Apr; 95(4):233-40. PubMed ID: 9623260
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  • 34. Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.
    Khan AO, Abu-Safieh L.
    Ophthalmic Genet; 2015 Apr; 36(4):369-72. PubMed ID: 24547929
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  • 35. Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.
    Khan AO, Al Teneiji AM.
    Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
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  • 36. Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
    Khan AO.
    Ophthalmic Genet; 2019 Feb; 40(1):60-63. PubMed ID: 30822235
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  • 37. Histopathology of hypotrichosis with juvenile macular dystrophy.
    Bergman R, Sapir M, Sprecher E.
    Am J Dermatopathol; 2004 Jun; 26(3):205-9. PubMed ID: 15166507
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  • 38. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
    Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J.
    Ophthalmic Genet; 1995 Mar; 16(1):11-5. PubMed ID: 7648037
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  • 39. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
    Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.
    Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374
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  • 40. Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.
    Narayan A, Moosajee M.
    BMJ Case Rep; 2019 Oct 23; 12(10):. PubMed ID: 31645385
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