Etiology
Dhamija R,
Kirmani S,
Wang X,
Ferber MJ,
Wieben ED,
Lazaridis KN,
Babovic-Vuksanovic D
Am J Med Genet A
2014 Sep;164A(9):2356-9.
Epub 2014 May 28
doi: 10.1002/ajmg.a.36621.
PMID: 24888332
de Milly MN,
Alison M,
Arthurs O,
Vuillard E,
Oury JF,
Elmaleh-Berges M,
Sebag G,
Belarbi N
Prenat Diagn
2013 Mar;33(3):273-8.
Epub 2013 Jan 25
doi: 10.1002/pd.4058.
PMID: 23355017
Takenouchi T,
Okuno H,
Kosaki R,
Ariyasu D,
Torii C,
Momoshima S,
Harada N,
Yoshihashi H,
Takahashi T,
Awazu M,
Kosaki K
Am J Med Genet A
2012 Oct;158A(10):2537-41.
Epub 2012 Aug 10
doi: 10.1002/ajmg.a.35465.
PMID: 22887648
Zechi-Ceide RM,
Ribeiro LA,
Raskin S,
Bertolacini CD,
Guion-Almeida ML,
Richieri-Costa A
Am J Med Genet A
2009 Jun;149A(6):1277-9.
doi: 10.1002/ajmg.a.32844.
PMID: 19449411
König R,
Beeg T,
Tariverdian G,
Scheffer H,
Bitter K
Clin Dysmorphol
2003 Oct;12(4):221-5.
doi: 10.1097/00019605-200310000-00002.
PMID: 14564207
Diagnosis
Rich M,
Schroeder B,
Manning C,
Abbott MA
Prenat Diagn
2023 Dec;43(13):1671-1673.
Epub 2023 Nov 27
doi: 10.1002/pd.6472.
PMID: 38013637
Lansdon LA,
Bernabe HV,
Nidey N,
Standley J,
Schnieders MJ,
Murray JC
J Dent Res
2017 Oct;96(11):1339-1345.
Epub 2017 Aug 21
doi: 10.1177/0022034517726496.
PMID: 28825856Free PMC Article
Oliver JD,
Menapace DC,
Cofer SA
Int J Pediatr Otorhinolaryngol
2017 Jul;98:4-8.
Epub 2017 Apr 24
doi: 10.1016/j.ijporl.2017.04.035.
PMID: 28583501
de Milly MN,
Alison M,
Arthurs O,
Vuillard E,
Oury JF,
Elmaleh-Berges M,
Sebag G,
Belarbi N
Prenat Diagn
2013 Mar;33(3):273-8.
Epub 2013 Jan 25
doi: 10.1002/pd.4058.
PMID: 23355017
Keaton AA,
Solomon BD,
van Essen AJ,
Pfleghaar KM,
Slama MA,
Martin JA,
Muenke M
Am J Med Genet C Semin Med Genet
2010 Feb 15;154C(1):170-5.
doi: 10.1002/ajmg.c.30251.
PMID: 20104609Free PMC Article
Prognosis
Palumbo P,
Petracca A,
Maggi R,
Biagini T,
Nardella G,
Sacco MC,
Di Schiavi E,
Carella M,
Micale L,
Castori M
Eur J Hum Genet
2019 Jul;27(7):1113-1120.
Epub 2019 Feb 20
doi: 10.1038/s41431-019-0350-4.
PMID: 30787447Free PMC Article
Lansdon LA,
Bernabe HV,
Nidey N,
Standley J,
Schnieders MJ,
Murray JC
J Dent Res
2017 Oct;96(11):1339-1345.
Epub 2017 Aug 21
doi: 10.1177/0022034517726496.
PMID: 28825856Free PMC Article
König R,
Beeg T,
Tariverdian G,
Scheffer H,
Bitter K
Clin Dysmorphol
2003 Oct;12(4):221-5.
doi: 10.1097/00019605-200310000-00002.
PMID: 14564207
Clinical prediction guides
Palumbo P,
Petracca A,
Maggi R,
Biagini T,
Nardella G,
Sacco MC,
Di Schiavi E,
Carella M,
Micale L,
Castori M
Eur J Hum Genet
2019 Jul;27(7):1113-1120.
Epub 2019 Feb 20
doi: 10.1038/s41431-019-0350-4.
PMID: 30787447Free PMC Article
Lansdon LA,
Bernabe HV,
Nidey N,
Standley J,
Schnieders MJ,
Murray JC
J Dent Res
2017 Oct;96(11):1339-1345.
Epub 2017 Aug 21
doi: 10.1177/0022034517726496.
PMID: 28825856Free PMC Article
Dhamija R,
Kirmani S,
Wang X,
Ferber MJ,
Wieben ED,
Lazaridis KN,
Babovic-Vuksanovic D
Am J Med Genet A
2014 Sep;164A(9):2356-9.
Epub 2014 May 28
doi: 10.1002/ajmg.a.36621.
PMID: 24888332
Takenouchi T,
Okuno H,
Kosaki R,
Ariyasu D,
Torii C,
Momoshima S,
Harada N,
Yoshihashi H,
Takahashi T,
Awazu M,
Kosaki K
Am J Med Genet A
2012 Oct;158A(10):2537-41.
Epub 2012 Aug 10
doi: 10.1002/ajmg.a.35465.
PMID: 22887648