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Journal Abstract Search

143 related items for PubMed ID: 30006058

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  • 3. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
    Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Boycott KM, Chitayat D.
    Clin Genet; 2017 May; 91(5):708-716. PubMed ID: 27718516
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  • 5. Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
    Birnbaum R, Yosha-Orpaz N, Yanoov-Sharav M, Kidron D, Gur H, Yosovich K, Lerman-Sagie T, Malinger G, Lev D.
    Am J Med Genet A; 2019 Jan; 179(1):78-84. PubMed ID: 30513135
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  • 9. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
    Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.
    J Med Genet; 2016 Jun; 53(6):419-25. PubMed ID: 26843489
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  • 11. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
    Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Geneviève D, Willems M.
    Eur J Med Genet; 2019 Mar; 62(3):161-166. PubMed ID: 30006060
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  • 12. Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
    Zhang T, Yang Y, Yin X, Wang X, Ni J, Dong Z, Li C, Lu W.
    Am J Med Genet A; 2021 Mar; 185(3):710-718. PubMed ID: 33354850
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  • 13. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
    Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A.
    J Hum Genet; 2016 May; 61(5):457-61. PubMed ID: 26763883
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  • 15. Expanding the phenotype of feingold syndrome-2.
    Grote LE, Repnikova EA, Amudhavalli SM.
    Am J Med Genet A; 2015 Dec; 167A(12):3219-25. PubMed ID: 26360630
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  • 18. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
    Shalev SA, Spiegel R, Borochowitz ZU.
    Eur J Med Genet; 2012 Apr; 55(4):256-64. PubMed ID: 22440536
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  • 20. Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
    Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V.
    Am J Med Genet A; 2020 Aug; 182(8):1865-1872. PubMed ID: 32618096
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