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Results 1 - 10 of 38 for Van Maldergem syndrome
  1. FAT4 gene 
    ... have also been found in individuals who have van Maldergem syndrome, a condition characterized by intellectual disability, hearing loss, ... periventricular heterotopia. The FAT4 gene mutations that cause van Maldergem syndrome lead to a decrease in FAT4 protein function. ...
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  2. 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
  3. 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
  4. 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
  5. 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 ...
    https://medlineplus.gov/genetics/gene/sall1 - 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. 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
  8. TBX5 gene 
    ... 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/gene/tbx5 - Genetics
  9. 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
  10. TWIST1 gene 
    ... Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
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