Page last updated: 2024-10-16

adenine and Achondroplasia

adenine has been researched along with Achondroplasia in 2 studies

Achondroplasia: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Dakouane Giudicelli, M1
Serazin, V1
Le Sciellour, CR1
Albert, M1
Selva, J1
Giudicelli, Y1
Sobetzko, D1
Braga, S1
Rüdeberg, A1
Superti-Furga, A1

Other Studies

2 other studies available for adenine and Achondroplasia

ArticleYear
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies.
    Fertility and sterility, 2008, Volume: 89, Issue:6

    Topics: Achondroplasia; Adenine; Adult; Aged; Biopsy; DNA; Gene Frequency; Guanine; Humans; Male; Middle Age

2008
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
    Journal of medical genetics, 2000, Volume: 37, Issue:12

    Topics: Achondroplasia; Adenine; Adult; Amino Acid Substitution; Arginine; Child; Female; Glycine; Guanine;

2000