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
Parlak S,
Gumeler E,
Sennaroglu L,
Ozgen B
Diagn Interv Radiol
2022 Jan;28(1):50-57.
doi: 10.5152/dir.2021.20791.
PMID: 34914607
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
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
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
Guan J,
Li J,
Chen G,
Shi T,
Lan L,
Wu X,
Zhao C,
Wang D,
Wang H,
Wang Q
Eur J Med Genet
2021 Oct;64(10):104311.
Epub 2021 Aug 17
doi: 10.1016/j.ejmg.2021.104311.
PMID: 34416374
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
Marini JC,
Forlino A,
Bächinger HP,
Bishop NJ,
Byers PH,
Paepe A,
Fassier F,
Fratzl-Zelman N,
Kozloff KM,
Krakow D,
Montpetit K,
Semler O
Nat Rev Dis Primers
2017 Aug 18;3:17052.
doi: 10.1038/nrdp.2017.52.
PMID: 28820180
Yoneda K
J Dermatol
2016 Mar;43(3):252-63.
doi: 10.1111/1346-8138.13284.
PMID: 26945533
Therapy
Barua M,
John R,
Stella L,
Li W,
Roslin NM,
Sharif B,
Hack S,
Lajoie-Starkell G,
Schwaderer AL,
Becknell B,
Wuttke M,
Köttgen A,
Cattran D,
Paterson AD,
Pei Y
Am J Kidney Dis
2018 Mar;71(3):441-445.
Epub 2017 Dec 1
doi: 10.1053/j.ajkd.2017.09.005.
PMID: 29198386
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
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
Tylki-Szymańska A
Pediatr Endocrinol Rev
2014 Sep;12 Suppl 1:107-13.
PMID: 25345092
Weber M,
Netzer KO,
Pullig O
Clin Investig
1992 Sep;70(9):809-15.
doi: 10.1007/BF00180752.
PMID: 1450636
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
Barua M,
John R,
Stella L,
Li W,
Roslin NM,
Sharif B,
Hack S,
Lajoie-Starkell G,
Schwaderer AL,
Becknell B,
Wuttke M,
Köttgen A,
Cattran D,
Paterson AD,
Pei Y
Am J Kidney Dis
2018 Mar;71(3):441-445.
Epub 2017 Dec 1
doi: 10.1053/j.ajkd.2017.09.005.
PMID: 29198386
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
Tylki-Szymańska A
Pediatr Endocrinol Rev
2014 Sep;12 Suppl 1:107-13.
PMID: 25345092
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
Guan J,
Li J,
Chen G,
Shi T,
Lan L,
Wu X,
Zhao C,
Wang D,
Wang H,
Wang Q
Eur J Med Genet
2021 Oct;64(10):104311.
Epub 2021 Aug 17
doi: 10.1016/j.ejmg.2021.104311.
PMID: 34416374
Barua M,
John R,
Stella L,
Li W,
Roslin NM,
Sharif B,
Hack S,
Lajoie-Starkell G,
Schwaderer AL,
Becknell B,
Wuttke M,
Köttgen A,
Cattran D,
Paterson AD,
Pei Y
Am J Kidney Dis
2018 Mar;71(3):441-445.
Epub 2017 Dec 1
doi: 10.1053/j.ajkd.2017.09.005.
PMID: 29198386
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
Tylki-Szymańska A
Pediatr Endocrinol Rev
2014 Sep;12 Suppl 1:107-13.
PMID: 25345092