Etiology
Hajimoradi M,
Haseli S,
Abadi A,
Chalian M
Skeletal Radiol
2021 Sep;50(9):1749-1762.
Epub 2021 Feb 9
doi: 10.1007/s00256-021-03732-9.
PMID: 33559685
Gündoğdu E,
Emekli E,
Oğuzman M,
Kebapçı M
J Pediatr Endocrinol Metab
2019 Sep 25;32(9):995-1003.
doi: 10.1515/jpem-2019-0223.
PMID: 31369396
Soejima H,
Higashimoto K
J Hum Genet
2013 Jul;58(7):402-9.
Epub 2013 May 30
doi: 10.1038/jhg.2013.51.
PMID: 23719190
Trigui M,
Pannier S,
Finidori G,
Padovani JP,
Glorion C
J Pediatr Orthop
2008 Sep;28(6):599-606.
doi: 10.1097/BPO.0b013e3181831ec8.
PMID: 18724194
Greenspan A
Skeletal Radiol
1991;20(8):561-83.
doi: 10.1007/BF01106087.
PMID: 1776023
Diagnosis
Hajimoradi M,
Haseli S,
Abadi A,
Chalian M
Skeletal Radiol
2021 Sep;50(9):1749-1762.
Epub 2021 Feb 9
doi: 10.1007/s00256-021-03732-9.
PMID: 33559685
Mitsui T,
Kim OH,
Hall CM,
Offiah A,
Johnson D,
Jin DK,
Toh TH,
Soneda S,
Keino D,
Matsubayashi S,
Ishii T,
Nishimura G,
Hasegawa T
Am J Med Genet A
2014 Oct;164A(10):2529-34.
Epub 2014 Jul 10
doi: 10.1002/ajmg.a.36669.
PMID: 25044890
Lin AE,
Traum AZ,
Sahai I,
Keppler-Noreuil K,
Kukolich MK,
Adam MP,
Westra SJ,
Arts HH
Am J Med Genet A
2013 Nov;161A(11):2762-76.
Epub 2013 Oct 3
doi: 10.1002/ajmg.a.36265.
PMID: 24123776
Simon M,
Campos-Xavier AB,
Mittaz-Crettol L,
Valadares ER,
Carvalho D,
Speck-Martins CE,
Nampoothiri S,
Alanay Y,
Mihci E,
van Bever Y,
Garcia-Segarra N,
Cavalcanti D,
Mortier G,
Bonafé L,
Superti-Furga A
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):230-7.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31339.
PMID: 22791571
Trigui M,
Pannier S,
Finidori G,
Padovani JP,
Glorion C
J Pediatr Orthop
2008 Sep;28(6):599-606.
doi: 10.1097/BPO.0b013e3181831ec8.
PMID: 18724194
Therapy
Pansombut T,
Wikaisuksakul S,
Khongkraphan K,
Phon-On A
Comput Intell Neurosci
2019;2019:7519603.
Epub 2019 Jun 2
doi: 10.1155/2019/7519603.
PMID: 31281337Free PMC Article
Prognosis
Dulski J,
Souza J,
Santos ML,
Wszolek ZK
Orphanet J Rare Dis
2023 Jun 22;18(1):160.
doi: 10.1186/s13023-023-02772-9.
PMID: 37349768Free PMC Article
Turan S
Bone
2023 Feb;167:116615.
Epub 2022 Nov 17
doi: 10.1016/j.bone.2022.116615.
PMID: 36402365
Gündoğdu E,
Emekli E,
Oğuzman M,
Kebapçı M
J Pediatr Endocrinol Metab
2019 Sep 25;32(9):995-1003.
doi: 10.1515/jpem-2019-0223.
PMID: 31369396
Narayanan DL,
Shukla A,
Kausthubham N,
Bhavani GS,
Shah H,
Mortier G,
Girisha KM
Am J Med Genet A
2019 Sep;179(9):1709-1717.
Epub 2019 Jun 27
doi: 10.1002/ajmg.a.61267.
PMID: 31250547
Simon M,
Campos-Xavier AB,
Mittaz-Crettol L,
Valadares ER,
Carvalho D,
Speck-Martins CE,
Nampoothiri S,
Alanay Y,
Mihci E,
van Bever Y,
Garcia-Segarra N,
Cavalcanti D,
Mortier G,
Bonafé L,
Superti-Furga A
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):230-7.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31339.
PMID: 22791571
Clinical prediction guides
Dulski J,
Souza J,
Santos ML,
Wszolek ZK
Orphanet J Rare Dis
2023 Jun 22;18(1):160.
doi: 10.1186/s13023-023-02772-9.
PMID: 37349768Free PMC Article
Turan S
Bone
2023 Feb;167:116615.
Epub 2022 Nov 17
doi: 10.1016/j.bone.2022.116615.
PMID: 36402365
Gündoğdu E,
Emekli E,
Oğuzman M,
Kebapçı M
J Pediatr Endocrinol Metab
2019 Sep 25;32(9):995-1003.
doi: 10.1515/jpem-2019-0223.
PMID: 31369396
Narayanan DL,
Shukla A,
Kausthubham N,
Bhavani GS,
Shah H,
Mortier G,
Girisha KM
Am J Med Genet A
2019 Sep;179(9):1709-1717.
Epub 2019 Jun 27
doi: 10.1002/ajmg.a.61267.
PMID: 31250547
Simon M,
Campos-Xavier AB,
Mittaz-Crettol L,
Valadares ER,
Carvalho D,
Speck-Martins CE,
Nampoothiri S,
Alanay Y,
Mihci E,
van Bever Y,
Garcia-Segarra N,
Cavalcanti D,
Mortier G,
Bonafé L,
Superti-Furga A
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):230-7.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31339.
PMID: 22791571