Citations for
1DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
Am J Hum Genet. Oct 28:S0002-9297(20)30363-3. doi: 10.1016/j.ajhg.2020.10.005. Epub ahead of print. 2020
2DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. PMID:
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J
Am J Hum Genet. Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. 2020
3FTX
Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family.
Stuhrmann M, Bashawri L, Ahmed MA, Al-Awamy BH, Kuhnau W, Schmidtke J, El-Harith EA.
Br J Haematol 112(3):616-20. 2001