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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.
Pongmee P, Wittayakornrerk S, Lekwuttikarn R, Pakdeeto S, Watcharakuldilok P, Prempunpong C, Tim-Aroon T, Puttanapitak C, Wattanasoontornsakul P, Junhasavasdikul T, Wongkittichote P, Noojarern S, Wattanasirichaigoon D. Pongmee P, et al. Among authors: noojarern s. Front Genet. 2022 Apr 1;13:847150. doi: 10.3389/fgene.2022.847150. eCollection 2022. Front Genet. 2022. PMID: 35432467 Free PMC article.
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Phetthong T, Tim-Aroon T, Khongkraparn A, Noojarern S, Kuptanon C, Wichajarn K, Sathienkijkanchai A, Suphapeetiporn K, Charoenkwan P, Tantiworawit A, Noentong N, Wattanasirichaigoon D. Phetthong T, et al. Among authors: noojarern s. Orphanet J Rare Dis. 2021 Dec 20;16(1):519. doi: 10.1186/s13023-021-02151-2. Orphanet J Rare Dis. 2021. PMID: 34930372 Free PMC article.
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K, Tim-Aroon T, Mahachoklertwattana P, Chantratita W, Iemwimangsa N, Sensorn I, Panthan B, Jiaranai P, Noojarern S, Khlairit P, Pongratanakul S, Suprasongsin C, Korwutthikulrangsri M, Sriphrapradang C, Poomthavorn P. Sorapipatcharoen K, et al. Among authors: noojarern s. Endocr Connect. 2020 Nov;9(11):1121-1134. doi: 10.1530/EC-20-0411. Endocr Connect. 2020. PMID: 33310921 Free PMC article.