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Results 1 - 10 of 21 for Van Maldergem syndrome
  1. Hennekam syndrome 
    ... caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  2. Baller-Gerold syndrome 
    ... 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: ... nlm.nih.gov/books/NBK1204/ Citation on PubMed Van Maldergem ... association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  3. 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 ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Oral-facial-digital syndrome 
    ... on PubMed Siebert JR. The oral-facial-digital syndromes. Handb Clin Neurol. 2008;87:341-51. doi: 10.1016/S0072-9752(07)87018-7. No abstract available. Citation on PubMed Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  10. Distal hereditary motor neuropathy, type V 
    ... 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/...distal-hereditary-motor-neuropathy-type-v - Genetics
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