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RIN2 and BBS7 variants as cause of a coincidental syndrome.
Shaukat M, Ishaq T, Muhammad N, Naz S. Shaukat M, et al. Among authors: ishaq t. Eur J Med Genet. 2020 Mar;63(3):103755. doi: 10.1016/j.ejmg.2019.103755. Epub 2019 Sep 12. Eur J Med Genet. 2020. PMID: 31521835
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. Among authors: ishaq t. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.