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 62 for ADULT syndrome
  1. TP63 gene 
    ... clefting (EEC) syndrome; acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome; and limb-mammary syndrome (LMS). This group of ... protein p53-competing protein Tests of TP63 PubMed ADULT SYNDROME SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 ECTRODACTYLY, ECTODERMAL ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  2. LYST gene 
    ... Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002 Feb 15;108( ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  3. MT-TV gene 
    ... mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology. 1997 Aug;49(2):589-92. doi: ...
    https://medlineplus.gov/genetics/gene/mt-tv - Genetics
  4. TBX1 gene 
    ... Bassett AS. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2007 Feb;120(6):837-45. ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  5. SLC2A10 gene 
    ... Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a ...
    https://medlineplus.gov/genetics/gene/slc2a10 - Genetics
  6. FBN1 gene 
    ... C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  7. SURF1 gene 
    ... Gene ClinVar Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Citation on PubMed Lee ... SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/surf1 - Genetics
  8. GBE1 gene 
    ... Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  9. CHRNE gene 
    ... subunit (found only in fetal AChR) to form adult AChR protein. More than 90 mutations in the CHRNE gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace one DNA building ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  10. MYH3 gene 
    ... embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015 Jun 15; ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · next