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Results 1 - 10 of 13 for Van Maldergem syndrome 2
  1. SALL1 gene 
    ... Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Citation ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  2. SPINK5 gene 
    ... Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale ... J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747. ...
    https://medlineplus.gov/genetics/gene/spink5 - Genetics
  3. OFD1 gene 
    ... Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu ... Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Citation ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. RECQL4 gene 
    ... mvp074. Epub 2009 May 18. Citation on PubMed Van Maldergem L, ... gene. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  5. TWIST1 gene 
    ... Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  6. BSCL2 gene 
    ... Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  7. PYCR1 gene 
    ... Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Erratum In: Nat Genet. 2022 Feb;54(2): ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics
  8. AGPAT2 gene 
    ... role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem. 2006 Apr 21;281(16):11082-9. doi: 10.1074/jbc.M509612200. Epub 2006 Feb 22. Citation on PubMed Magre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
  9. GPC3 gene 
    ... Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, ... C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. ...
    https://medlineplus.gov/genetics/gene/gpc3 - Genetics
  10. FLNA gene 
    ... Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini ... PubMed Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
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