Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 22 for Fryns syndrome
  1. PIGN gene 
    ... the PIGN gene have been found to cause Fryns syndrome in some people. This condition affects the development ... many parts of the body. Most people with Fryns syndrome have a defect in the muscle that separates ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
  2. VPS13B gene 
    ... R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  3. KMT2D gene 
    ... RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat. 2011 Feb;32(2):E2018-25. ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  4. EHMT1 gene 
    ... Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006 Aug;79(2): ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  5. FGD1 gene 
    ... Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light ...
    https://medlineplus.gov/genetics/gene/fgd1 - Genetics
  6. UMOD gene 
    ... Hulkova H, Zivny J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006 Sep;70(6):1155-69. ...
    https://medlineplus.gov/genetics/gene/umod - Genetics
  7. SALL1 gene 
    ... K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, 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
  8. GPC3 gene 
    ... Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the ...
    https://medlineplus.gov/genetics/gene/gpc3 - Genetics
  9. FREM1 gene 
    ... Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  10. FLNB gene 
    ... E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
previous · 1 · 2 · 3 · next