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Results 1 - 10 of 19 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  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. 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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