Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A.
Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7.
Hamartomas of the Retina and Optic Disc.
Mirzayev I, Gündüz AK.
Turk J Ophthalmol. 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979.
Congenital basis of posterior fossa anomalies.
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R.
Neuroradiol J. 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D.
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2.
[Congenital abnormalities of the optic disc].
Denis D, Hugo J, Beylerian M, Ramtohul P, Aziz A, Matonti F, Lebranchu P.
J Fr Ophtalmol. 2019 Sep;42(7):778-789. doi: 10.1016/j.jfo.2018.09.011. Epub 2019 Mar 29.
Congenital malformations of the eye and orbit.
Guercio JR, Martyn LJ.
Otolaryngol Clin North Am. 2007 Feb;40(1):113-40, vii. doi: 10.1016/j.otc.2006.11.013.
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC.
BMC Med Genomics. 2024 Apr 26;17(1):106. doi: 10.1186/s12920-024-01880-0.
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.
Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K.
J Clin Invest. 2014 Jan;124(1):111-6. doi: 10.1172/JCI70462. Epub 2013 Dec 20.
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H.
Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13.
Congenital anomalies of the retina.
Cogan DG.
Birth Defects Orig Artic Ser. 1971 Mar;7(3):41-51.
