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Journal Abstract Search

143 related items for PubMed ID: 31502355

  • 21. Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome.
    Kurban M, Abbas O, Ghosn S, Kibbi AG.
    Pediatr Dermatol; 2010; 27(5):551-3. PubMed ID: 20796237
    [Abstract] [Full Text] [Related]

  • 22. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
    Cardoso ML, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F.
    Clin Genet; 2014 Feb; 85(2):184-8. PubMed ID: 23509885
    [Abstract] [Full Text] [Related]

  • 23. CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.
    Sandoval KR, Machado MCR, Oliveira ZNP, Nico MMS.
    An Bras Dermatol; 2019 Jul 26; 94(3):341-343. PubMed ID: 31365666
    [Abstract] [Full Text] [Related]

  • 24. CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
    Tang MM, Tan WC, Surana U, Leong KF, Pramano ZAD.
    Int J Dermatol; 2021 Apr 26; 60(4):e154-e156. PubMed ID: 33169834
    [No Abstract] [Full Text] [Related]

  • 25. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
    Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ.
    Mol Genet Genomic Med; 2022 Jan 26; 10(1):e1848. PubMed ID: 34957706
    [Abstract] [Full Text] [Related]

  • 26. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
    Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH.
    Dermatology; 2005 Jan 26; 211(2):155-8. PubMed ID: 16088165
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  • 27. [CHILD syndrome].
    Kume A.
    Ryoikibetsu Shokogun Shirizu; 2000 Jan 26; (30 Pt 5):159-60. PubMed ID: 11057178
    [No Abstract] [Full Text] [Related]

  • 28. A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
    Saito M, Ishiko A.
    Br J Dermatol; 2008 Nov 26; 159(5):1204-6. PubMed ID: 18764845
    [No Abstract] [Full Text] [Related]

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  • 30. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Jing F, Yang D, Chen T, Liang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):878-882. PubMed ID: 27984627
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  • 32. Small intestinal mucosal xanthoma in a patient with CHILD syndrome.
    Ryan C, Quinn S, McDermott M.
    J Clin Pathol; 2013 Dec 10; 66(12):1094-5. PubMed ID: 23969275
    [No Abstract] [Full Text] [Related]

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  • 35. Another CHILD syndrome with xanthomatous pattern.
    Zamora-Martinez E, Martin-Moreno L, Barat-Cascante A, Castro-Torres A.
    Dermatologica; 1990 Dec 10; 180(4):263-6. PubMed ID: 2358107
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  • 37. Expression profile of NSDHL in human peripheral tissues.
    Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.
    J Mol Histol; 2012 Feb 10; 43(1):95-106. PubMed ID: 22113624
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  • 40. Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.
    Martínez R, Peña C, Quiroga-Carrillo M, Ordóñez-Reyes C, Rincón J, Suárez-Obando F, Nossa S, García MF.
    Clin Dysmorphol; 2022 Jul 01; 31(3):162-166. PubMed ID: 35394469
    [No Abstract] [Full Text] [Related]

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