Etiology
Grigelioniene G,
Geiberger S,
Horemuzova E,
Moström E,
Jäntti N,
Neumeyer L,
Åström E,
Nordenskjöld M,
Nordgren A,
Mäkitie O
Am J Med Genet A
2014 Jul;164A(7):1635-41.
Epub 2014 Mar 26
doi: 10.1002/ajmg.a.36502.
PMID: 24677493
Miyake N,
Elcioglu NH,
Iida A,
Isguven P,
Dai J,
Murakami N,
Takamura K,
Cho TJ,
Kim OH,
Hasegawa T,
Nagai T,
Ohashi H,
Nishimura G,
Matsumoto N,
Ikegawa S
J Med Genet
2012 Aug;49(8):533-8.
Epub 2012 Jul 11
doi: 10.1136/jmedgenet-2012-101039.
PMID: 22791835
Nishimura G,
Lausch E,
Savarirayan R,
Shiba M,
Spranger J,
Zabel B,
Ikegawa S,
Superti-Furga A,
Unger S
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):190-204.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31335.
PMID: 22791502
Mukamel M,
Karmazyn B,
de Vries L,
Horev G,
Shohat M
Am J Med Genet A
2003 Jul 15;120A(2):272-5.
doi: 10.1002/ajmg.a.20204.
PMID: 12833413
Shohat M,
Lachman R,
Gruber HE,
Rimoin DL
Am J Med Genet
1989 Jun;33(2):209-19.
doi: 10.1002/ajmg.1320330214.
PMID: 2669482
Diagnosis
Nouara F,
Amalou G,
Bouzidi A,
Charif M,
Charoute H,
Lenaers G,
El Arabi S,
Bousfiha B,
Barakat A
Arch Oral Biol
2022 Oct;142:105518.
Epub 2022 Aug 6
doi: 10.1016/j.archoralbio.2022.105518.
PMID: 35998423
Lim YJ,
Lee HR,
Kim OH,
Cho TJ,
Park KB
Skeletal Radiol
2017 Sep;46(9):1297-1300.
Epub 2017 Jun 10
doi: 10.1007/s00256-017-2684-8.
PMID: 28601949
Grigelioniene G,
Geiberger S,
Horemuzova E,
Moström E,
Jäntti N,
Neumeyer L,
Åström E,
Nordenskjöld M,
Nordgren A,
Mäkitie O
Am J Med Genet A
2014 Jul;164A(7):1635-41.
Epub 2014 Mar 26
doi: 10.1002/ajmg.a.36502.
PMID: 24677493
Mukamel M,
Karmazyn B,
de Vries L,
Horev G,
Shohat M
Am J Med Genet A
2003 Jul 15;120A(2):272-5.
doi: 10.1002/ajmg.a.20204.
PMID: 12833413
Darcan S,
Yalman O,
Coker M,
Demir N,
Ozkinay F
J Pediatr Endocrinol Metab
2000 Jul-Aug;13(7):955-8.
doi: 10.1515/jpem.2000.13.7.955.
PMID: 10968486
Therapy
Dai J,
Kim OH,
Cho TJ,
Schmidt-Rimpler M,
Tonoki H,
Takikawa K,
Haga N,
Miyoshi K,
Kitoh H,
Yoo WJ,
Choi IH,
Song HR,
Jin DK,
Kim HT,
Kamasaki H,
Bianchi P,
Grigelioniene G,
Nampoothiri S,
Minagawa M,
Miyagawa SI,
Fukao T,
Marcelis C,
Jansweijer MC,
Hennekam RC,
Bedeschi F,
Mustonen A,
Jiang Q,
Ohashi H,
Furuichi T,
Unger S,
Zabel B,
Lausch E,
Superti-Furga A,
Nishimura G,
Ikegawa S
J Med Genet
2010 Oct;47(10):704-9.
Epub 2010 Jun 24
doi: 10.1136/jmg.2009.075358.
PMID: 20577006
Prognosis
Grigelioniene G,
Geiberger S,
Horemuzova E,
Moström E,
Jäntti N,
Neumeyer L,
Åström E,
Nordenskjöld M,
Nordgren A,
Mäkitie O
Am J Med Genet A
2014 Jul;164A(7):1635-41.
Epub 2014 Mar 26
doi: 10.1002/ajmg.a.36502.
PMID: 24677493
Cho TJ,
Matsumoto K,
Fano V,
Dai J,
Kim OH,
Chae JH,
Yoo WJ,
Tanaka Y,
Matsui Y,
Takigami I,
Monges S,
Zabel B,
Shimizu K,
Nishimura G,
Lausch E,
Ikegawa S
Am J Med Genet A
2012 Apr;158A(4):795-802.
Epub 2012 Mar 14
doi: 10.1002/ajmg.a.35268.
PMID: 22419508
Krakow D,
Vriens J,
Camacho N,
Luong P,
Deixler H,
Funari TL,
Bacino CA,
Irons MB,
Holm IA,
Sadler L,
Okenfuss EB,
Janssens A,
Voets T,
Rimoin DL,
Lachman RS,
Nilius B,
Cohn DH
Am J Hum Genet
2009 Mar;84(3):307-15.
Epub 2009 Feb 19
doi: 10.1016/j.ajhg.2009.01.021.
PMID: 19232556Free PMC Article
Mukamel M,
Karmazyn B,
de Vries L,
Horev G,
Shohat M
Am J Med Genet A
2003 Jul 15;120A(2):272-5.
doi: 10.1002/ajmg.a.20204.
PMID: 12833413
Hoo JJ,
Oliphant M
Am J Med Genet A
2003 Jan 1;116A(1):80-4.
doi: 10.1002/ajmg.a.10875.
PMID: 12476457
Clinical prediction guides
Bownass L,
Abbs S,
Armstrong R,
Baujat G,
Behzadi G,
Berentsen RD,
Burren C,
Calder A,
Cormier-Daire V,
Newbury-Ecob R,
Foulds N,
Juliusson PB,
Kant SG,
Lefroy H,
Mehta SG,
Merckoll E,
Michot C,
Monsell F,
Offiah AC,
Richards A,
Rosendahl K,
Rustad CF,
Shears D,
Tveten K,
Wellesley D,
Wordsworth P;
Deciphering Developmental Disorders Study,
Smithson S
Am J Med Genet A
2019 Sep;179(9):1884-1894.
Epub 2019 Jul 16
doi: 10.1002/ajmg.a.61282.
PMID: 31313512
Lim YJ,
Lee HR,
Kim OH,
Cho TJ,
Park KB
Skeletal Radiol
2017 Sep;46(9):1297-1300.
Epub 2017 Jun 10
doi: 10.1007/s00256-017-2684-8.
PMID: 28601949
Cho TJ,
Matsumoto K,
Fano V,
Dai J,
Kim OH,
Chae JH,
Yoo WJ,
Tanaka Y,
Matsui Y,
Takigami I,
Monges S,
Zabel B,
Shimizu K,
Nishimura G,
Lausch E,
Ikegawa S
Am J Med Genet A
2012 Apr;158A(4):795-802.
Epub 2012 Mar 14
doi: 10.1002/ajmg.a.35268.
PMID: 22419508
Krakow D,
Vriens J,
Camacho N,
Luong P,
Deixler H,
Funari TL,
Bacino CA,
Irons MB,
Holm IA,
Sadler L,
Okenfuss EB,
Janssens A,
Voets T,
Rimoin DL,
Lachman RS,
Nilius B,
Cohn DH
Am J Hum Genet
2009 Mar;84(3):307-15.
Epub 2009 Feb 19
doi: 10.1016/j.ajhg.2009.01.021.
PMID: 19232556Free PMC Article
Shohat M,
Lachman R,
Gruber HE,
Rimoin DL
Am J Med Genet
1989 Jun;33(2):209-19.
doi: 10.1002/ajmg.1320330214.
PMID: 2669482