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Journal Abstract Search

481 related items for PubMed ID: 3706411

  • 1. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC, Thomas PS, Hutchinson J.
    Am J Med Genet; 1986 May; 24(1):33-9. PubMed ID: 3706411
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  • 3. Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?
    Hankenson LG, Ozonoff MB, Cassidy SB.
    Am J Med Genet; 1989 Jul; 33(3):336-40. PubMed ID: 2801767
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  • 5. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
    Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M.
    Am J Med Genet A; 2018 Feb; 176(2):465-469. PubMed ID: 29265708
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  • 8. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
    Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM.
    Hum Genet; 2018 Dec; 137(11-12):905-909. PubMed ID: 30368667
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  • 9. Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
    Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y.
    Am J Med Genet; 1995 Mar 13; 56(1):6-9. PubMed ID: 7747786
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  • 10. Spondylometaphyseal dysplasia: a variant form.
    Felman AH, Frias JL, Rennert OM.
    Radiology; 1974 Nov 13; 113(2):409-15. PubMed ID: 4419008
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  • 11. Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.
    Tsukahara M, Matsuo K, Furukawa S.
    Am J Med Genet; 1995 Aug 28; 58(2):159-60. PubMed ID: 8533809
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  • 14. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.
    Traboulsi EI, Faris BM, Der Kaloustian VM.
    Am J Med Genet; 1986 May 28; 24(1):95-100. PubMed ID: 3085500
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  • 15. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
    Lowry RB, Wood BJ, Cox TA, Hayden MR.
    Am J Med Genet; 1989 Jul 28; 33(3):341-5. PubMed ID: 2801768
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  • 16. Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.
    Rimoin DL, McAlister WH.
    Birth Defects Orig Artic Ser; 1971 Mar 28; 07(4):116-22. PubMed ID: 5173335
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  • 17. Ichthyosiform eruption in a patient with Dubowitz syndrome.
    Kato T, Komatsu H, Sakakibara A, Tagami H.
    Pediatr Dermatol; 1995 Jun 28; 12(2):130-3. PubMed ID: 7659638
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  • 18. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.
    Meinecke P, Passarge E.
    J Med Genet; 1991 Nov 28; 28(11):795-800. PubMed ID: 1770539
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  • 19. Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.
    Lowry RB, Wood BJ.
    Clin Genet; 1975 Oct 28; 8(4):269-74. PubMed ID: 1183069
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  • 20. Metacarpophalangeal pattern profile analysis in diastrophic dysplasia.
    Butler MG, Gale DD, Meaney FJ.
    Am J Med Genet; 1987 Nov 28; 28(3):685-9. PubMed ID: 3425635
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