Results 1 -
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24
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turner syndrome
- ... Küster-Hauser syndrome More About This Health Condition Turner syndrome occurs when one normal X chromosome is present ... located on the sex chromosomes, most women with Turner syndrome have only one copy of the gene in ...
- ... in this family has been described as Wilson-Turner syndrome, which is a form of X-linked intellectual ... the same disease spectrum as Cornelia de Lange syndrome (described above). CDA07 CDLS5 HD8 HDACL1 histone ... NCBI Gene ClinVar Deardorff MA, Bando ...
- ... Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet. ...
- ... Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet. 2005 Jun;76(6): ...
- ... Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. ...
- ... Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3. ...
- ... Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, ... STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357( ...
- ... N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, ... syndrome supports a major contribution of EHMT1 haploinsufficiency to ...
- ... function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Citation on PubMed Elbauomy Elsheikh S, Green AR, Lambros MB, Turner NC, Grainge MJ, Powe D, Ellis IO, Reis- ...
- ... Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur ... mutations in ABCC9 cause Cantu syndrome. Nat Genet. 2012 May 18;44(7):793- ...
