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Quoted phrase not found in phrase index: "Otofaciocervical syndrome 2"
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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S. Yakici N, et al. Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9. Clin Immunol. 2023. PMID: 37689091 Free PMC article.
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. ...New overlapping features with DiGeorge synd …
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type …
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.
Kreins AY, Bonfanti P, Davies EG. Kreins AY, et al. Front Immunol. 2021 Mar 18;12:655354. doi: 10.3389/fimmu.2021.655354. eCollection 2021. Front Immunol. 2021. PMID: 33815417 Free PMC article. Review.
It is also found in rare cases of T-cell lymphopenia due to Nude SCID and Otofaciocervical Syndrome type 2, or in the context of genetically undefined defects. ...
It is also found in rare cases of T-cell lymphopenia due to Nude SCID and Otofaciocervical Syndrome type 2, or in the c …
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.
Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A. Patil SJ, et al. Am J Med Genet A. 2018 May;176(5):1200-1206. doi: 10.1002/ajmg.a.38659. Am J Med Genet A. 2018. PMID: 29681087 Review.
Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. ...
Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive in …
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.
Sherlaw-Sturrock C, Austin T, Baptista J, Gilmour K, Naik S. Sherlaw-Sturrock C, et al. Eur J Med Genet. 2022 Jul;65(7):104523. doi: 10.1016/j.ejmg.2022.104523. Epub 2022 May 17. Eur J Med Genet. 2022. PMID: 35595062
Otofaciocervical syndrome (OTFCS) is a rare condition associated with short stature, abnormal facial features and conductive hearing loss. OTFCS type 2 (OTFCS) is an autosomal recessive form of this condition with associated T cell deficiency due to biallelic …
Otofaciocervical syndrome (OTFCS) is a rare condition associated with short stature, abnormal facial features and conductive h …