References
- Meroni G. X-linked Opitz G/BBB syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993.
- Cox TC, Allen LR, Cox LL, et al. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet. 2000;9(17):2553–2562.
- De Falco F, Cainarca S, Andolfi G, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet. 2003;120A(2):222–228.
- Mnayer L, Khuri S, Merheby HA, et al. A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab. 2006;87(3):198–203.
- Pinson L, Augé J, Audollent S, et al. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet. 2004;41(5):381–386.
- So J, Suckow V, Kijas Z, et al. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet. 2005;132A(1):1–7.
- Schweiger S, Foerster J, Lehmann T, et al. The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci USA. 1999;96(6):2794–2799.
- Short KM, Hopwood B, Yi Z, et al. MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biol. 2002;3(1):1.
- Trockenbacher A, Suckow V, Foerster J, et al. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet. 2001;29(3):287–294.
- Normand EA, Braxton A, Nassef S, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018;10(1):74.
- Cicatiello R, Pignataro P, Izzo A, et al. Chromosomal microarray analysis versus karyotyping in fetuses with increased nuchal translucency. Med Sci. 2019;7(3):1–8.
- Maruotti GM, Frisso G, Calcagno G, et al. Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre. Clin Chem Lab Med. 2013;51(12):2211–2217.
- Carsana A, Frisso G, Tremolaterra MR, et al. A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy. J Mol Diagn JMD. 2007;9(1):64–69.
- Hogdall C, Siegel-Bartelt J, Toi A, et al. Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism. Prenat Diagn. 1989;9(11):783–793.
- Tajima H, Itoh H, Mochizuki A, et al. Case of polyhydramnios complicated by Opitz G/BBB syndrome. J Obstet Gynaecol Res. 2010;36(4):876–881.
- Cheng YK, Huang J, Law KM, et al. Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. Clin Chim Acta. 2014;436:140–142.
- Spinelli M, Sica C, Dallapiccola B, et al. The challenge of prenatal diagnostic work-up of maternally inherited X-linked Opitz G/BBB: case report and literature review. Case Rep Obstet Gynecol. 2015;2015:1–5.
- Li B, Zhou T, Zou Y. Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. Mol Genet Genomic Med. 2016;4(1):95–105.
- Chaoui R, Orosz G, Heling KS, et al. Maxillary gap at 11–13 weeks’ gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol. 2015;46(6):665–669.
- Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393(10173):758–767.