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Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR. Kantaputra PN, et al. Among authors: olsen b. Eur J Orthod. 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. Eur J Orthod. 2021. PMID: 32255174
Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K. Kantaputra PN, et al. Among authors: olsen b. Arch Oral Biol. 2020 Nov;119:104918. doi: 10.1016/j.archoralbio.2020.104918. Epub 2020 Sep 16. Arch Oral Biol. 2020. PMID: 32977150
Are dental anomalies associated with Tietz syndrome?
Kantaputra PN, Intachai W, Carlson B, Olsen B, Ngaohirunphat S, Sri-Oon J, Ketudat Cairns JR, Choovuthayakorn J. Kantaputra PN, et al. Among authors: olsen b. Eur J Dermatol. 2020 Dec 1;30(6):734-736. doi: 10.1684/ejd.2020.3905. Eur J Dermatol. 2020. PMID: 33459262 No abstract available.
A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Ketudat Cairns JR, Kawasaki K, Ohazama A, Olsen B, Tongsima S, Angkurawaranon S. Kantaputra PN, et al. Among authors: olsen b. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Dec;132(6):e198-e207. doi: 10.1016/j.oooo.2021.01.023. Epub 2021 Jan 28. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021. PMID: 33737016
WNT10A variant and severe scoliosis?
Kantaputra P, Olsen B, McGrath JA. Kantaputra P, et al. Among authors: olsen b. J Dermatol. 2022 May;49(5):e183-e184. doi: 10.1111/1346-8138.16313. Epub 2022 Feb 21. J Dermatol. 2022. PMID: 35191062 No abstract available.
1,290 results