Etiology
Tyrakowski M,
Pietrzak S,
Przybysz W,
Czubak J
Ortop Traumatol Rehabil
2011 Sep-Oct;13(5):511-20.
doi: 10.5604/15093492.967220.
PMID: 22147440
Mehlman CT,
Rubinstein JH,
Roy DR
J Pediatr Orthop
1998 Jul-Aug;18(4):508-11.
PMID: 9661863
Lewin SO,
Opitz JM
Am J Med Genet Suppl
1986;2:215-38.
doi: 10.1002/ajmg.1320250626.
PMID: 3146293
Diagnosis
Nabais Sá MJ,
Miller KA,
McQuaid M,
Koelling N,
Wilkie AOM,
Wurtele H,
de Brouwer APM,
Oliveira J
J Med Genet
2022 Aug;59(8):776-780.
Epub 2021 Aug 5
doi: 10.1136/jmedgenet-2020-107572.
PMID: 34353863Free PMC Article
Ting CY,
Bhatia NS,
Lim JY,
Goh CJ,
Vasanwala RF,
Ong CC,
Seow WT,
Yeow VK,
Ting TW,
Ng IS,
Jamuar SS
Eur J Med Genet
2020 Feb;63(2):103652.
Epub 2019 Apr 13
doi: 10.1016/j.ejmg.2019.04.009.
PMID: 30986546
Fenwick AL,
Kliszczak M,
Cooper F,
Murray J,
Sanchez-Pulido L,
Twigg SR,
Goriely A,
McGowan SJ,
Miller KA,
Taylor IB,
Logan C;
WGS500 Consortium,
Bozdogan S,
Danda S,
Dixon J,
Elsayed SM,
Elsobky E,
Gardham A,
Hoffer MJ,
Koopmans M,
McDonald-McGinn DM,
Santen GW,
Savarirayan R,
de Silva D,
Vanakker O,
Wall SA,
Wilson LC,
Yuregir OO,
Zackai EH,
Ponting CP,
Jackson AP,
Wilkie AO,
Niedzwiedz W,
Bicknell LS
Am J Hum Genet
2016 Jul 7;99(1):125-38.
Epub 2016 Jun 30
doi: 10.1016/j.ajhg.2016.05.019.
PMID: 27374770Free PMC Article
Chacon-Camacho OF,
Villegas-Ruiz V,
Buentello-Volante B,
Piña-Aguilar RE,
Peláez-González H,
Ramírez M,
González-Rodríguez J,
Zenteno JC
Am J Med Genet A
2015 Feb;167A(2):282-6.
Epub 2014 Nov 26
doi: 10.1002/ajmg.a.36851.
PMID: 25427842
Stevens CA
Am J Med Genet
1997 Oct 17;72(2):188-90.
PMID: 9382141
Therapy
Mo D,
Zhao Y,
Balajee AS
Cancer Lett
2018 Jan 28;413:1-10.
Epub 2017 Nov 7
doi: 10.1016/j.canlet.2017.10.021.
PMID: 29080750
Prognosis
Knapp KM,
Fellows B,
Aggarwal S,
Dalal A,
Bicknell LS
Eur J Med Genet
2021 Apr;64(4):104182.
Epub 2021 Feb 25
doi: 10.1016/j.ejmg.2021.104182.
PMID: 33639314
Fenwick AL,
Kliszczak M,
Cooper F,
Murray J,
Sanchez-Pulido L,
Twigg SR,
Goriely A,
McGowan SJ,
Miller KA,
Taylor IB,
Logan C;
WGS500 Consortium,
Bozdogan S,
Danda S,
Dixon J,
Elsayed SM,
Elsobky E,
Gardham A,
Hoffer MJ,
Koopmans M,
McDonald-McGinn DM,
Santen GW,
Savarirayan R,
de Silva D,
Vanakker O,
Wall SA,
Wilson LC,
Yuregir OO,
Zackai EH,
Ponting CP,
Jackson AP,
Wilkie AO,
Niedzwiedz W,
Bicknell LS
Am J Hum Genet
2016 Jul 7;99(1):125-38.
Epub 2016 Jun 30
doi: 10.1016/j.ajhg.2016.05.019.
PMID: 27374770Free PMC Article
Tyrakowski M,
Pietrzak S,
Przybysz W,
Czubak J
Ortop Traumatol Rehabil
2011 Sep-Oct;13(5):511-20.
doi: 10.5604/15093492.967220.
PMID: 22147440
Mehlman CT,
Rubinstein JH,
Roy DR
J Pediatr Orthop
1998 Jul-Aug;18(4):508-11.
PMID: 9661863
Clinical prediction guides
Knapp KM,
Fellows B,
Aggarwal S,
Dalal A,
Bicknell LS
Eur J Med Genet
2021 Apr;64(4):104182.
Epub 2021 Feb 25
doi: 10.1016/j.ejmg.2021.104182.
PMID: 33639314
Fenwick AL,
Kliszczak M,
Cooper F,
Murray J,
Sanchez-Pulido L,
Twigg SR,
Goriely A,
McGowan SJ,
Miller KA,
Taylor IB,
Logan C;
WGS500 Consortium,
Bozdogan S,
Danda S,
Dixon J,
Elsayed SM,
Elsobky E,
Gardham A,
Hoffer MJ,
Koopmans M,
McDonald-McGinn DM,
Santen GW,
Savarirayan R,
de Silva D,
Vanakker O,
Wall SA,
Wilson LC,
Yuregir OO,
Zackai EH,
Ponting CP,
Jackson AP,
Wilkie AO,
Niedzwiedz W,
Bicknell LS
Am J Hum Genet
2016 Jul 7;99(1):125-38.
Epub 2016 Jun 30
doi: 10.1016/j.ajhg.2016.05.019.
PMID: 27374770Free PMC Article
Croteau DL,
Rossi ML,
Ross J,
Dawut L,
Dunn C,
Kulikowicz T,
Bohr VA
Biochim Biophys Acta
2012 Nov;1822(11):1727-34.
Epub 2012 Jul 31
doi: 10.1016/j.bbadis.2012.07.014.
PMID: 22885111Free PMC Article