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Results 1 - 10 of 19 for Van Maldergem syndrome 1
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Hennekam syndrome 
    ... caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. ... doi: 10.1097/MCD.0000000000000036. Citation on PubMed Van Balkom ID, ... 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
  7. Holt-Oram syndrome 
    ... Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov;58(5):981-6. ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  8. Weaver syndrome 
    ... Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  9. Netherton syndrome 
    ... Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of ...
    https://medlineplus.gov/genetics/condition/netherton-syndrome - Genetics
  10. Silver syndrome 
    ... 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/condition/silver-syndrome - Genetics
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