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 16 for Kleefstra syndrome 1
  1. EHMT1 gene 
    ... mutations that disable its function.Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  2. PQBP1 gene 
    ... on PubMed Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. 2005 May 1;134(4):415-21. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  3. CHD3 gene 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  4. PHF21A gene 
    ... Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs ... Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/gene/phf21a - Genetics
  5. OFD1 gene 
    ... JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND ... account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Hum Mutat. 2009 Feb; ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  6. MECP2 gene 
    ... of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. PLoS One. 2016 Mar 1;11(3):e0150101. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  7. ANKRD11 gene 
    ... considered a separate disorder, called 16q24.3 microdeletion syndrome. More About This Health Condition ANCO-1 ANCO1 ankyrin repeat domain-containing protein 11 ankyrin ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  8. FOXG1 gene 
    ... mutations associated with the congenital variant of Rett syndrome. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. Citation on PubMed Striano P, Paravidino R, ... syndrome associated with 14q12 duplications harboring FOXG1. Neurology. 2011 ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
  9. SMC3 gene 
    ... P, Jessberger R, Musio A. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  10. ADNP gene 
    ... M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat ...
    https://medlineplus.gov/genetics/gene/adnp - Genetics
previous · 1 · 2 · next