Oral-Facial-Digital Syndrome Type I.
Franco B, Bruel AL, Thauvin-Robinet C.
2002 Jul 24 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Oral-Facial-Digital Syndrome Type 1: A Case Report and Review.
Ko YW, Ko JY, Ro YS, Kim JE.
Ann Dermatol. 2022 Apr;34(2):132-135. doi: 10.5021/ad.2022.34.2.132. Epub 2022 Mar 24.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J.
Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27.
Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit.
You JI, Bang SK, Yu SY, Jin KH.
J Pediatr Genet. 2020 Dec;9(4):289-292. doi: 10.1055/s-0039-1700973. Epub 2020 Jan 21.
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O.
Georgian Med News. 2018 Dec;(285):47-51.
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.
Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5.
Oro-facial-digital syndrome type I: a case report with novel features.
Syed S, Sawant PR, Spadigam A, Dhupar A.
Autops Case Rep. 2021 Aug 20;11:e2021315. doi: 10.4322/acr.2021.315. eCollection 2021.
INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.
Clin Genet. 2018 Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6.
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
Faily S, Perveen R, Chandler K, Clayton-Smith J.
Cleft Palate Craniofac J. 2020 May;57(5):606-615. doi: 10.1177/1055665620902880. Epub 2020 Feb 17.
Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.
Azukizawa T, Yamamoto M, Narumiya S, Takano T.
Pediatr Neurol. 2013 Apr;48(4):329-32. doi: 10.1016/j.pediatrneurol.2012.12.016.
