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Van Maldergem syndrome
- ... 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. ...
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, ... type 1 syndrome after negative DNA sequencing. Hum Mutat. 2009 Feb; ...
- ... 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. ...
- ... A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium; van Montfort R, Rahman N. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46( ...
- ... mvp074. Epub 2009 May 18. Citation on PubMed Van Maldergem ... association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J ...
- ... S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, ... spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a ...
