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Results 1 - 10 of 51 for Young syndrome
  1. PROKR2 gene 
    ... article on PubMed Central Sarfati J, Dode C, Young J. Kallmann syndrome caused by mutations in the PROK2 and PROKR2 ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
  2. RPS6KA3 gene 
    ... 2003.06.001. Citation on PubMed Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002 ...
    https://medlineplus.gov/genetics/gene/rps6ka3 - Genetics
  3. PROK2 gene 
    ... Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and ...
    https://medlineplus.gov/genetics/gene/prok2 - Genetics
  4. HNF1B gene 
    ... a type of maturity-onset diabetes of the young (MODY) called renal cysts and diabetes (RCAD) syndrome (described above). Other features of 17q12 deletion syndrome ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  5. KAT6B gene 
    ... been found to cause the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. This condition has signs and symptoms that overlap ...
    https://medlineplus.gov/genetics/gene/kat6b - Genetics
  6. ANKRD11 gene 
    ... Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  7. NAGLU gene 
    ... NAGLU NCBI Gene ClinVar Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics
  8. LRP5 gene 
    ... bone mineral density, leading to osteoporosis at a young age. More About This Health Condition Multiple LRP5 gene variants that cause osteoporosis-pseudoglioma syndrome have been identified. Beginning in childhood, people with ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  9. FGFR1 gene 
    ... ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  10. MBD5 gene 
    ... or Free article on PubMed Central Walz K, Young JI. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014 Nov 3;2(1):e967151. ...
    https://medlineplus.gov/genetics/gene/mbd5 - Genetics
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