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Results 1 - 10 of 38 for Van Maldergem syndrome 1
  1. TWIST1 gene 
    ... Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, ... screening. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012- ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  2. Baller-Gerold syndrome 
    ... the literature. Childs Nerv Syst. 2006 Jan;22(1):90-4. doi: 10.1007/s00381-004-1089-x. Epub 2005 Mar 23. Citation on PubMed Van Maldergem L, Piard J, Larizza L, Wang LL. Baller-Gerold Syndrome. 2007 Aug 13 [updated 2018 Apr 19]. In: ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  3. OFD1 gene 
    ... Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, ... syndrome type 1: a French and Belgian collaborative study. J Med ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. Saethre-Chotzen syndrome 
    ... Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, ... screening. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012- ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  5. Swyer syndrome 
    ... L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, ... syndrome. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606- ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  6. Oral-facial-digital syndrome 
    ... Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, ... syndrome type 1: a French and Belgian collaborative study. J Med ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  7. Chromosome 11 
    ... Amsallem D, Thines L, Roze V, Dahlen E, Van Maldergem L, Kuentz P. The Largest Germline ... doi: 10.1017/S1462399406000020. Citation on PubMed ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  8. Townes-Brocks Syndrome 
    ... Organization for Rare Disorders (NORD) TOWNES-BROCKS SYNDROME 1; ... S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes- ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  9. FAT4 gene 
    ... have also been found in individuals who have van Maldergem syndrome, a condition that is characterized by intellectual disabilities, ... development. The pathogenic FAT4 gene variants that cause van Maldergem syndrome decrease the activity of the FAT4 protein, which ...
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  10. Hennekam syndrome 
    ... caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. ... 40633. Epub 2018 Nov 18. Citation on PubMed Van Balkom ID, Alders M, ... a review. Am J Med Genet. 2002 Nov 1;112(4):412-21. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
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