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Results 1 - 10 of 32 for Van Maldergem syndrome 2
  1. Townes-Brocks Syndrome 
    ... 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/condition/townes-brocks-syndrome - Genetics
  2. 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
  3. 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
  4. Netherton syndrome 
    ... 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/condition/netherton-syndrome - Genetics
  5. 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
  6. Baller-Gerold syndrome 
    ... nlm.nih.gov/books/NBK1204/ 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/condition/baller-gerold-syndrome - Genetics
  7. 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
  8. Silver syndrome 
    ... mutations in two Dutch families with overlapping Silver syndrome-distal ... Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, ...
    https://medlineplus.gov/genetics/condition/silver-syndrome - Genetics
  9. Hennekam syndrome 
    ... caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. ... JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij ... Kapoor S. Hennekam syndrome: a rare and often ignored cause of intestinal ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  10. Saethre-Chotzen syndrome 
    ... ClinicalTrials.gov SAETHRE-CHOTZEN SYNDROME; SCS ROBINOW-SORAUF SYNDROME PubMed Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
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