Etiology
Sezer A,
Perçin FE,
Kazan HH,
Kayhan G,
Akturk M
Am J Med Genet A
2022 Jun;188(6):1890-1895.
Epub 2022 Mar 6
doi: 10.1002/ajmg.a.62713.
PMID: 35253374
Leal GF,
Nishimura G,
Voss U,
Bertola DR,
Åström E,
Svensson J,
Yamamoto GL,
Hammarsjö A,
Horemuzova E,
Papadiogannakis N,
Iwarsson E,
Grigelioniene G,
Tham E
J Bone Miner Res
2018 Apr;33(4):753-760.
Epub 2018 Jan 4
doi: 10.1002/jbmr.3348.
PMID: 29178448
Flöttmann R,
Wagner J,
Kobus K,
Curry CJ,
Savarirayan R,
Nishimura G,
Yasui N,
Spranger J,
Van Esch H,
Lyons MJ,
DuPont BR,
Dwivedi A,
Klopocki E,
Horn D,
Mundlos S,
Spielmann M
J Med Genet
2015 Jul;52(7):476-83.
Epub 2015 Jun 1
doi: 10.1136/jmedgenet-2015-103108.
PMID: 26032025
Barca-Tierno V,
Aza-Carmona M,
Barroso E,
Heine-Suner D,
Azmanov D,
Rosell J,
Ezquieta B,
Montané LS,
Vendrell T,
Cruz J,
Santos F,
Rodríguez JI,
Pozo J,
Argente J,
Kalaydjieva L,
Gracía R,
Campos-Barros A,
Benito-Sanz S,
Heath KE
Eur J Hum Genet
2011 Dec;19(12):1218-25.
Epub 2011 Jun 29
doi: 10.1038/ejhg.2011.128.
PMID: 21712857Free PMC Article
Siwicka KA,
Kitoh H,
Nishiyama M,
Ishiguro N
J Pediatr Orthop B
2008 Sep;17(5):271-6.
doi: 10.1097/BPB.0b013e32830cc3c8.
PMID: 19471182
Diagnosis
Spurna Z,
Capkova P,
Srovnal J,
Duchoslavova J,
Punova L,
Aleksijevic D,
Vrtel R
Gene
2022 Apr 15;818:146238.
Epub 2022 Jan 22
doi: 10.1016/j.gene.2022.146238.
PMID: 35074420
Ambrosetti F,
Palicelli A,
Bulfamante G,
Rivasi F
Fetal Pediatr Pathol
2014 Apr;33(2):71-83.
Epub 2013 Jul 24
doi: 10.3109/15513815.2013.807322.
PMID: 23883335
Aggarwal V,
Aggarwal N,
Venkat B
J Pediatr Orthop B
2014 Mar;23(2):200-2.
doi: 10.1097/BPB.0b013e3283642242.
PMID: 23863349
Gahunia HK,
Babyn PS,
Kirsch S,
Mendoza-Londono R
Semin Musculoskelet Radiol
2009 Sep;13(3):236-54.
Epub 2009 Sep 1
doi: 10.1055/s-0029-1237691.
PMID: 19724992
Petrella R,
Ludman MD,
Rabinowitz JG,
Gilbert F,
Hirschhorn K
Am J Med Genet
1990 Sep;37(1):10-4.
doi: 10.1002/ajmg.1320370104.
PMID: 2240023
Therapy
Iughetti L,
Madeo S,
Predieri B
J Endocrinol Invest
2010 Jun;33(6 Suppl):34-8.
PMID: 21057184
Shah BC,
Moran ES,
Zinn AR,
Pappas JG
J Clin Endocrinol Metab
2009 Dec;94(12):5028-33.
Epub 2009 Oct 22
doi: 10.1210/jc.2009-0679.
PMID: 19850687
Prognosis
Bassani S,
Chrast J,
Ambrosini G,
Voisin N,
Schütz F,
Brusco A,
Sirchia F,
Turban L,
Schubert S,
Abou Jamra R,
Schlump JU,
DeMille D,
Bayrak-Toydemir P,
Nelson GR,
Wong KN,
Duncan L,
Mosera M,
Gilissen C,
Vissers LELM,
Pfundt R,
Kersseboom R,
Yttervik H,
Hansen GÅM,
Smeland MF,
Butler KM,
Lyons MJ,
Carvalho CMB,
Zhang C,
Lupski JR,
Potocki L,
Flores-Gallegos L,
Morales-Toquero R,
Petit F,
Yalcin B,
Tuttle A,
Elloumi HZ,
McCormick L,
Kukolich M,
Klaas O,
Horvath J,
Scala M,
Iacomino M,
Operto F,
Zara F,
Writzl K,
Maver A,
Haanpää MK,
Pohjola P,
Arikka H,
Kievit AJA,
Calandrini C,
Iseli C,
Guex N,
Reymond A
Genome Med
2024 May 30;16(1):72.
doi: 10.1186/s13073-024-01339-y.
PMID: 38811945Free PMC Article
Sezer A,
Perçin FE,
Kazan HH,
Kayhan G,
Akturk M
Am J Med Genet A
2022 Jun;188(6):1890-1895.
Epub 2022 Mar 6
doi: 10.1002/ajmg.a.62713.
PMID: 35253374
Albuisson J,
Schmitt S,
Baron S,
Bézieau S,
Benito-Sanz S,
Heath KE
Eur J Hum Genet
2012 Aug;20(8)
Epub 2012 Apr 18
doi: 10.1038/ejhg.2012.64.
PMID: 22510850Free PMC Article
Tüysüz B,
Zeybek C,
Zorer G,
Sipahi O,
Ungür S
Am J Med Genet
2002 May 1;109(3):206-10.
doi: 10.1002/ajmg.10283.
PMID: 11977180
Kantaputra PN,
Gorlin RJ,
Langer LO Jr
Am J Med Genet
1992 Dec 1;44(6):730-7.
doi: 10.1002/ajmg.1320440606.
PMID: 1481840
Clinical prediction guides
Sezer A,
Perçin FE,
Kazan HH,
Kayhan G,
Akturk M
Am J Med Genet A
2022 Jun;188(6):1890-1895.
Epub 2022 Mar 6
doi: 10.1002/ajmg.a.62713.
PMID: 35253374
Whitmore KM,
Buzon MR
Int J Paleopathol
2019 Sep;26:135-144.
Epub 2019 Aug 1
doi: 10.1016/j.ijpp.2019.07.006.
PMID: 31377579
Barca-Tierno V,
Aza-Carmona M,
Barroso E,
Heine-Suner D,
Azmanov D,
Rosell J,
Ezquieta B,
Montané LS,
Vendrell T,
Cruz J,
Santos F,
Rodríguez JI,
Pozo J,
Argente J,
Kalaydjieva L,
Gracía R,
Campos-Barros A,
Benito-Sanz S,
Heath KE
Eur J Hum Genet
2011 Dec;19(12):1218-25.
Epub 2011 Jun 29
doi: 10.1038/ejhg.2011.128.
PMID: 21712857Free PMC Article
Shears DJ,
Guillen-Navarro E,
Sempere-Miralles M,
Domingo-Jimenez R,
Scambler PJ,
Winter RM
Am J Med Genet
2002 Jun 15;110(2):153-7.
doi: 10.1002/ajmg.10421.
PMID: 12116253
Blaschke RJ,
Rappold GA
Trends Endocrinol Metab
2000 Aug;11(6):227-30.
doi: 10.1016/s1043-2760(00)00262-9.
PMID: 10878753