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Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.
Kosztyła-Hojna B, Borys J, Zdrojkowski M, Duchnowska E, Kraszewska A, Wasilewska D, Zweier C, Midro AT. Kosztyła-Hojna B, et al. Among authors: midro at. Appl Clin Genet. 2021 Sep 6;14:389-398. doi: 10.2147/TACG.S316215. eCollection 2021. Appl Clin Genet. 2021. PMID: 34522120 Free PMC article.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: midro at. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M. Kunz F, et al. Among authors: midro a. Am J Med Genet A. 2020 Jul;182(7):1681-1689. doi: 10.1002/ajmg.a.61610. Epub 2020 Jun 2. Am J Med Genet A. 2020. PMID: 32488952
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Midro AT, Tommerup N, Borys J, Panasiuk B, Kosztyła-Hojna B, Zalewska R, Konstantynowicz J, Łebkowska U, Cooper L, Scherer SE, Mehrjouy MM, Liu Q, Skowroński R, Stankiewicz P. Midro AT, et al. Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633344 No abstract available.
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R. Midro AT, et al. Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431. Epub 2018 Oct 17. Am J Med Genet A. 2018. PMID: 30329210
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