Etiology
Glorieux FH,
Langdahl B,
Chapurlat R,
De Beur SJ,
Sutton VR,
Poole KES,
Dahir KM,
Orwoll ES,
Willie BM,
Mikolajewicz N,
Zimmermann E,
Hosseinitabatabaei S,
Ominsky MS,
Saville C,
Clancy J,
MacKinnon A,
Mistry A,
Javaid MK
J Bone Miner Res
2024 Sep 2;39(9):1215-1228.
doi: 10.1093/jbmr/zjae112.
PMID: 39012717Free PMC Article
McGill K,
Motamedi D,
Azimi N,
Horvai A,
O'Donnell R
J Radiol Case Rep
2020 Jul;14(7):1-9.
Epub 2020 Jul 31
doi: 10.3941/jrcr.v14i7.3920.
PMID: 33088414Free PMC Article
Savarirayan R,
Tofts L,
Irving M,
Wilcox W,
Bacino CA,
Hoover-Fong J,
Ullot Font R,
Harmatz P,
Rutsch F,
Bober MB,
Polgreen LE,
Ginebreda I,
Mohnike K,
Charrow J,
Hoernschemeyer D,
Ozono K,
Alanay Y,
Arundel P,
Kagami S,
Yasui N,
White KK,
Saal HM,
Leiva-Gea A,
Luna-González F,
Mochizuki H,
Basel D,
Porco DM,
Jayaram K,
Fisheleva E,
Huntsman-Labed A,
Day J
Lancet
2020 Sep 5;396(10252):684-692.
doi: 10.1016/S0140-6736(20)31541-5.
PMID: 32891212
Dwan K,
Phillipi CA,
Steiner RD,
Basel D
Cochrane Database Syst Rev
2016 Oct 19;10(10):CD005088.
doi: 10.1002/14651858.CD005088.pub4.
PMID: 27760454Free PMC Article
Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5.
PMID: 19232111Free PMC Article
Diagnosis
Glorieux FH,
Langdahl B,
Chapurlat R,
De Beur SJ,
Sutton VR,
Poole KES,
Dahir KM,
Orwoll ES,
Willie BM,
Mikolajewicz N,
Zimmermann E,
Hosseinitabatabaei S,
Ominsky MS,
Saville C,
Clancy J,
MacKinnon A,
Mistry A,
Javaid MK
J Bone Miner Res
2024 Sep 2;39(9):1215-1228.
doi: 10.1093/jbmr/zjae112.
PMID: 39012717Free PMC Article
McGill K,
Motamedi D,
Azimi N,
Horvai A,
O'Donnell R
J Radiol Case Rep
2020 Jul;14(7):1-9.
Epub 2020 Jul 31
doi: 10.3941/jrcr.v14i7.3920.
PMID: 33088414Free PMC Article
Savarirayan R,
Tofts L,
Irving M,
Wilcox W,
Bacino CA,
Hoover-Fong J,
Ullot Font R,
Harmatz P,
Rutsch F,
Bober MB,
Polgreen LE,
Ginebreda I,
Mohnike K,
Charrow J,
Hoernschemeyer D,
Ozono K,
Alanay Y,
Arundel P,
Kagami S,
Yasui N,
White KK,
Saal HM,
Leiva-Gea A,
Luna-González F,
Mochizuki H,
Basel D,
Porco DM,
Jayaram K,
Fisheleva E,
Huntsman-Labed A,
Day J
Lancet
2020 Sep 5;396(10252):684-692.
doi: 10.1016/S0140-6736(20)31541-5.
PMID: 32891212
Shaw NJ
Endocr Dev
2015;28:84-100.
Epub 2015 Jun 12
doi: 10.1159/000380997.
PMID: 26138837
Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5.
PMID: 19232111Free PMC Article
Therapy
Glorieux FH,
Langdahl B,
Chapurlat R,
De Beur SJ,
Sutton VR,
Poole KES,
Dahir KM,
Orwoll ES,
Willie BM,
Mikolajewicz N,
Zimmermann E,
Hosseinitabatabaei S,
Ominsky MS,
Saville C,
Clancy J,
MacKinnon A,
Mistry A,
Javaid MK
J Bone Miner Res
2024 Sep 2;39(9):1215-1228.
doi: 10.1093/jbmr/zjae112.
PMID: 39012717Free PMC Article
Leerling AT,
Clunie G,
Koutrouba E,
Dekkers OM,
Appelman-Dijkstra NM,
Winter EM
Orphanet J Rare Dis
2023 Jul 21;18(1):206.
doi: 10.1186/s13023-023-02831-1.
PMID: 37480122Free PMC Article
Arshad F,
Bishop N
Bone
2021 Jul;148:115914.
Epub 2021 Mar 17
doi: 10.1016/j.bone.2021.115914.
PMID: 33722772
Savarirayan R,
Tofts L,
Irving M,
Wilcox W,
Bacino CA,
Hoover-Fong J,
Ullot Font R,
Harmatz P,
Rutsch F,
Bober MB,
Polgreen LE,
Ginebreda I,
Mohnike K,
Charrow J,
Hoernschemeyer D,
Ozono K,
Alanay Y,
Arundel P,
Kagami S,
Yasui N,
White KK,
Saal HM,
Leiva-Gea A,
Luna-González F,
Mochizuki H,
Basel D,
Porco DM,
Jayaram K,
Fisheleva E,
Huntsman-Labed A,
Day J
Lancet
2020 Sep 5;396(10252):684-692.
doi: 10.1016/S0140-6736(20)31541-5.
PMID: 32891212
Dwan K,
Phillipi CA,
Steiner RD,
Basel D
Cochrane Database Syst Rev
2016 Oct 19;10(10):CD005088.
doi: 10.1002/14651858.CD005088.pub4.
PMID: 27760454Free PMC Article
Prognosis
Ivell R,
Heng K,
Severn K,
Antonio L,
Bartfai G,
Casanueva FF,
Huhtaniemi IT,
Giwercman A,
Maggi M,
O'Connor DB,
O'Neill TW,
Punab M,
Rastrelli G,
Slowikowska-Hilczer J,
Tournoy J,
Vanderschueren D,
Wu FCW,
Anand-Ivell R
Front Endocrinol (Lausanne)
2022;13:1016107.
Epub 2022 Nov 8
doi: 10.3389/fendo.2022.1016107.
PMID: 36425465Free PMC Article
Arshad F,
Bishop N
Bone
2021 Jul;148:115914.
Epub 2021 Mar 17
doi: 10.1016/j.bone.2021.115914.
PMID: 33722772
Katugampola H,
Saraff V,
Kumaran A,
Allgrove J,
Shaw NJ
Endocr Dev
2015;28:319-413.
Epub 2015 Jun 12
doi: 10.1159/000381571.
PMID: 26138850
Vergara-Lluri ME,
Piatek CI,
Pullarkat V,
Siddiqi IN,
O'Connell C,
Feinstein DI,
Brynes RK
Hum Pathol
2014 Nov;45(11):2183-91.
Epub 2014 Aug 13
doi: 10.1016/j.humpath.2014.07.017.
PMID: 25282037
Bradbury LA,
Barlow S,
Geoghegan F,
Hannon RA,
Stuckey SL,
Wass JA,
Russell RG,
Brown MA,
Duncan EL
Osteoporos Int
2012 Jan;23(1):285-94.
Epub 2011 Jul 8
doi: 10.1007/s00198-011-1658-2.
PMID: 21739105
Clinical prediction guides
Al Kaissi A,
Misof BM,
Laccone F,
Blouin S,
Roschger P,
Kircher SG,
Shboul M,
Mindler GT,
Girsch W,
Ganger R
Calcif Tissue Int
2021 Nov;109(5):586-595.
Epub 2021 May 18
doi: 10.1007/s00223-021-00862-z.
PMID: 34003338
Spampinato M,
Giallongo C,
Romano A,
Longhitano L,
La Spina E,
Avola R,
Scandura G,
Dulcamare I,
Bramanti V,
Di Rosa M,
Vicario N,
Parenti R,
Li Volti G,
Tibullo D,
Palumbo GA
Biomolecules
2021 Jan 19;11(1)
doi: 10.3390/biom11010122.
PMID: 33477816Free PMC Article
Sridharan K,
Sivaramakrishnan G
Curr Clin Pharmacol
2018;13(3):190-198.
doi: 10.2174/1574884713666180829143927.
PMID: 30160216
Dwan K,
Phillipi CA,
Steiner RD,
Basel D
Cochrane Database Syst Rev
2016 Oct 19;10(10):CD005088.
doi: 10.1002/14651858.CD005088.pub4.
PMID: 27760454Free PMC Article
Gelman MI
Radiology
1977 Nov;125(2):289-96.
doi: 10.1148/125.2.289.
PMID: 198844