Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ.
Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9.
[Ciliopathies].
Gerth-Kahlert C, Koller S.
Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13.
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.
Congenital anomalies of the retina.
Cogan DG.
Birth Defects Orig Artic Ser. 1971 Mar;7(3):41-51.
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.
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 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.
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.
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.
