Etiology
Bosman A,
Appelman-Dijkstra NM,
Boot AM,
de Borst MH,
van de Ven AC,
de Jongh RT,
Bökenkamp A,
van den Bergh JP,
van der Eerden BCJ,
Zillikens MC
Calcif Tissue Int
2024 Mar;114(3):255-266.
Epub 2024 Jan 16
doi: 10.1007/s00223-023-01172-2.
PMID: 38226986Free PMC Article
Chen Y,
Qiu J,
Wu Y,
Jia H,
Jiang Y,
Jiang M,
Wang Z,
Sheng HB,
Hu L,
Zhang Z,
Wang Z,
Li Y,
Huang Z,
Wu H
Orphanet J Rare Dis
2022 Feb 21;17(1):65.
doi: 10.1186/s13023-022-02235-7.
PMID: 35189936Free PMC Article
Smeds H,
Wales J,
Karltorp E,
Anderlid BM,
Henricson C,
Asp F,
Anmyr L,
Lagerstedt-Robinson K,
Löfkvist U
Ear Hear
2022 Jan/Feb;43(1):53-69.
doi: 10.1097/AUD.0000000000001073.
PMID: 34133399Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Wang Y,
Sivakumar V,
Mohammad M,
Colville D,
Storey H,
Flinter F,
Dagher H,
Savige J
Pediatr Nephrol
2014 Mar;29(3):391-6.
Epub 2013 Nov 2
doi: 10.1007/s00467-013-2643-0.
PMID: 24178893
Diagnosis
Bosman A,
Appelman-Dijkstra NM,
Boot AM,
de Borst MH,
van de Ven AC,
de Jongh RT,
Bökenkamp A,
van den Bergh JP,
van der Eerden BCJ,
Zillikens MC
Calcif Tissue Int
2024 Mar;114(3):255-266.
Epub 2024 Jan 16
doi: 10.1007/s00223-023-01172-2.
PMID: 38226986Free PMC Article
Shah R,
Johnsen C,
Pletcher BA,
Edmondson AC,
Kozicz T,
Morava E
Am J Med Genet A
2023 Jun;191(6):1626-1631.
Epub 2023 Mar 17
doi: 10.1002/ajmg.a.63179.
PMID: 36930724Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Köping M,
Shehata-Dieler W,
Schneider D,
Cebulla M,
Oder D,
Müntze J,
Nordbeck P,
Wanner C,
Hagen R,
Schraven SP
Orphanet J Rare Dis
2018 Aug 15;13(1):137.
doi: 10.1186/s13023-018-0882-7.
PMID: 30111353Free PMC Article
Cabanillas R,
Diñeiro M,
Cifuentes GA,
Castillo D,
Pruneda PC,
Álvarez R,
Sánchez-Durán N,
Capín R,
Plasencia A,
Viejo-Díaz M,
García-González N,
Hernando I,
Llorente JL,
Repáraz-Andrade A,
Torreira-Banzas C,
Rosell J,
Govea N,
Gómez-Martínez JR,
Núñez-Batalla F,
Garrote JA,
Mazón-Gutiérrez Á,
Costales M,
Isidoro-García M,
García-Berrocal B,
Ordóñez GR,
Cadiñanos J
BMC Med Genomics
2018 Jul 9;11(1):58.
doi: 10.1186/s12920-018-0375-5.
PMID: 29986705Free PMC Article
Therapy
Perretta F,
Antongiovanni N,
Jaurretche S
ScientificWorldJournal
2018;2018:6515613.
Epub 2018 May 21
doi: 10.1155/2018/6515613.
PMID: 29950951Free PMC Article
Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M
PLoS One
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
PMID: 27627812Free PMC Article
Baykal T,
Baygutalp F,
Senel K,
Levent A,
Erdal A,
Ugur M,
Ozgocmen S
J Back Musculoskelet Rehabil
2012;25(3):157-9.
doi: 10.3233/BMR-2012-0322.
PMID: 23077765
Kienitz T,
Ventz M,
Kaminsky E,
Quinkler M
Exp Clin Endocrinol Diabetes
2011 Jul;119(7):431-5.
Epub 2011 May 6
doi: 10.1055/s-0031-1277162.
PMID: 21553362
Hajioff D,
Enever Y,
Quiney R,
Zuckerman J,
Mackermot K,
Mehta A
J Inherit Metab Dis
2003;26(8):787-94.
doi: 10.1023/B:BOLI.0000009948.86528.72.
PMID: 14739683
Prognosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Nicklason E,
Mack H,
Beltz J,
Jacob J,
Farahani M,
Colville D,
Savige J
Ophthalmic Genet
2020 Feb;41(1):13-19.
Epub 2020 Mar 11
doi: 10.1080/13816810.2019.1709126.
PMID: 32159412
Cabanillas R,
Diñeiro M,
Cifuentes GA,
Castillo D,
Pruneda PC,
Álvarez R,
Sánchez-Durán N,
Capín R,
Plasencia A,
Viejo-Díaz M,
García-González N,
Hernando I,
Llorente JL,
Repáraz-Andrade A,
Torreira-Banzas C,
Rosell J,
Govea N,
Gómez-Martínez JR,
Núñez-Batalla F,
Garrote JA,
Mazón-Gutiérrez Á,
Costales M,
Isidoro-García M,
García-Berrocal B,
Ordóñez GR,
Cadiñanos J
BMC Med Genomics
2018 Jul 9;11(1):58.
doi: 10.1186/s12920-018-0375-5.
PMID: 29986705Free PMC Article
Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M
PLoS One
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
PMID: 27627812Free PMC Article
Wang Y,
Sivakumar V,
Mohammad M,
Colville D,
Storey H,
Flinter F,
Dagher H,
Savige J
Pediatr Nephrol
2014 Mar;29(3):391-6.
Epub 2013 Nov 2
doi: 10.1007/s00467-013-2643-0.
PMID: 24178893
Clinical prediction guides
Bosman A,
Appelman-Dijkstra NM,
Boot AM,
de Borst MH,
van de Ven AC,
de Jongh RT,
Bökenkamp A,
van den Bergh JP,
van der Eerden BCJ,
Zillikens MC
Calcif Tissue Int
2024 Mar;114(3):255-266.
Epub 2024 Jan 16
doi: 10.1007/s00223-023-01172-2.
PMID: 38226986Free PMC Article
Micevych PS,
Wong J,
Zhou H,
Wang RK,
Porco TC,
Carroll J,
Roorda A,
Duncan JL
Am J Ophthalmol
2023 Jun;250:1-11.
Epub 2023 Jan 14
doi: 10.1016/j.ajo.2023.01.006.
PMID: 36646238Free PMC Article
Miyake N,
Wolf NI,
Cayami FK,
Crawford J,
Bley A,
Bulas D,
Conant A,
Bent SJ,
Gripp KW,
Hahn A,
Humphray S,
Kimura-Ohba S,
Kingsbury Z,
Lajoie BR,
Lal D,
Micha D,
Pizzino A,
Sinke RJ,
Sival D,
Stolte-Dijkstra I,
Superti-Furga A,
Ulrick N,
Taft RJ,
Ogata T,
Ozono K,
Matsumoto N,
Neubauer BA,
Simons C,
Vanderver A
Neurogenetics
2017 Dec;18(4):185-194.
Epub 2017 Aug 26
doi: 10.1007/s10048-017-0520-x.
PMID: 28842795Free PMC Article
Savige J,
Storey H,
Il Cheong H,
Gyung Kang H,
Park E,
Hilbert P,
Persikov A,
Torres-Fernandez C,
Ars E,
Torra R,
Hertz JM,
Thomassen M,
Shagam L,
Wang D,
Wang Y,
Flinter F,
Nagel M
PLoS One
2016;11(9):e0161802.
Epub 2016 Sep 14
doi: 10.1371/journal.pone.0161802.
PMID: 27627812Free PMC Article
Wang Y,
Sivakumar V,
Mohammad M,
Colville D,
Storey H,
Flinter F,
Dagher H,
Savige J
Pediatr Nephrol
2014 Mar;29(3):391-6.
Epub 2013 Nov 2
doi: 10.1007/s00467-013-2643-0.
PMID: 24178893