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ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K. Akgun-Dogan O, et al. Among authors: gocmen r. Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4. Am J Med Genet A. 2019. PMID: 31584751
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E, Simsek-Kiper PÖ, Koşukcu C, Taşkıran EZ, Göçmen R, Utine E, Haliloğlu G, Boduroğlu K, Alikaşifoğlu M. Kındış E, et al. Among authors: gocmen r. Am J Med Genet A. 2021 Jun;185(6):1888-1896. doi: 10.1002/ajmg.a.62179. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33749994
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: gocmen r. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
122 results