Etiology
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
Child CJ,
Kalifa G,
Jones C,
Ross JL,
Rappold GA,
Quigley CA,
Zimmermann AG,
Garding G,
Cutler GB Jr,
Blum WF
Horm Res Paediatr
2015;84(1):14-25.
Epub 2015 May 6
doi: 10.1159/000381712.
PMID: 25967354
Aza-Carmona M,
Barca-Tierno V,
Hisado-Oliva A,
Belinchón A,
Gorbenko-del Blanco D,
Rodriguez JI,
Benito-Sanz S,
Campos-Barros A,
Heath KE
PLoS One
2014;9(1):e83104.
Epub 2014 Jan 8
doi: 10.1371/journal.pone.0083104.
PMID: 24421874Free PMC Article
Lewin SO,
Opitz JM
Am J Med Genet Suppl
1986;2:215-38.
doi: 10.1002/ajmg.1320250626.
PMID: 3146293
Kaitila I,
Leisti JT,
Rimoin DL
Clin Orthop Relat Res
1976 Jan-Feb;(114):94-106.
PMID: 1261139
Diagnosis
Lima AR,
Ferreira BM,
Zhang C,
Jolly A,
Du H,
White JJ,
Dawood M,
Lins TC,
Chiabai MA,
van Beusekom E,
Cordoba MS,
Caldas Rosa ECC,
Kayserili H,
Kimonis V,
Wu E,
Mellado C,
Aggarwal V,
Richieri-Costa A,
Brunoni D,
Canó TM,
Jorge AAL,
Kim CA,
Honjo R,
Bertola DR,
Dandalo-Girardi RM,
Bayram Y,
Gezdirici A,
Yilmaz-Gulec E,
Gumus E,
Yilmaz GC,
Okamoto N,
Ohashi H,
Coban-Akdemir Z,
Mitani T,
Jhangiani SN,
Muzny DM,
Regattieri NAP,
Pogue R,
Pereira RW,
Otto PA,
Gibbs RA,
Ali BR,
van Bokhoven H,
Brunner HG,
Sutton VR,
Lupski JR,
Vianna-Morgante AM,
Carvalho CMB,
Mazzeu JF
Hum Mutat
2022 Jul;43(7):900-918.
Epub 2022 May 10
doi: 10.1002/humu.24375.
PMID: 35344616Free PMC Article
Conlon CJ,
Abu-Ghname A,
Raghuram AC,
Davis MJ,
Guillen DE,
Sutton VR,
Carvalho CMB,
Maricevich RS
Am J Med Genet A
2021 Dec;185(12):3606-3612.
Epub 2020 Nov 25
doi: 10.1002/ajmg.a.61986.
PMID: 33237614
Abu-Ghname A,
Trost J,
Davis MJ,
Sutton VR,
Zhang C,
Guillen DE,
Carvalho CMB,
Maricevich RS
Am J Med Genet A
2021 Dec;185(12):3584-3592.
Epub 2020 Sep 25
doi: 10.1002/ajmg.a.61884.
PMID: 32974972
Patton MA,
Afzal AR
J Med Genet
2002 May;39(5):305-10.
doi: 10.1136/jmg.39.5.305.
PMID: 12011143Free PMC Article
Kaitila I,
Leisti JT,
Rimoin DL
Clin Orthop Relat Res
1976 Jan-Feb;(114):94-106.
PMID: 1261139
Therapy
Child CJ,
Kalifa G,
Jones C,
Ross JL,
Rappold GA,
Quigley CA,
Zimmermann AG,
Garding G,
Cutler GB Jr,
Blum WF
Horm Res Paediatr
2015;84(1):14-25.
Epub 2015 May 6
doi: 10.1159/000381712.
PMID: 25967354
Rappold GA,
Durand C,
Decker E,
Marchini A,
Schneider KU
Pediatr Endocrinol Rev
2012 May;9 Suppl 2:733-8.
PMID: 22946287
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
Lirk P,
Rieder J,
Schuerholz A,
Keller C
Paediatr Anaesth
2003 Oct;13(8):725-7.
doi: 10.1046/j.1460-9592.2003.01123.x.
PMID: 14535914
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
Castro S,
Peraza E,
Barraza A,
Zapata M
J Clin Ultrasound
2014 Jun;42(5):297-300.
Epub 2013 Oct 22
doi: 10.1002/jcu.22103.
PMID: 24151023
Laurell T,
Vandermeer JE,
Wenger AM,
Grigelioniene G,
Nordenskjöld A,
Arner M,
Ekblom AG,
Bejerano G,
Ahituv N,
Nordgren A
Hum Mutat
2012 Jul;33(7):1063-6.
Epub 2012 May 11
doi: 10.1002/humu.22097.
PMID: 22495965Free 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
Kaitila I,
Leisti JT,
Rimoin DL
Clin Orthop Relat Res
1976 Jan-Feb;(114):94-106.
PMID: 1261139
Clinical prediction guides
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
Conlon CJ,
Abu-Ghname A,
Raghuram AC,
Davis MJ,
Guillen DE,
Sutton VR,
Carvalho CMB,
Maricevich RS
Am J Med Genet A
2021 Dec;185(12):3606-3612.
Epub 2020 Nov 25
doi: 10.1002/ajmg.a.61986.
PMID: 33237614
Danyel M,
Kortüm F,
Dathe K,
Kutsche K,
Horn D
Am J Med Genet A
2018 Apr;176(4):992-996.
doi: 10.1002/ajmg.a.38635.
PMID: 29575616
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
Blaschke RJ,
Rappold GA
Trends Endocrinol Metab
2000 Aug;11(6):227-30.
doi: 10.1016/s1043-2760(00)00262-9.
PMID: 10878753