Society for Maternal-Fetal Medicine (SMFM); Monteagudo A.
Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7.
PMID:33168220
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y.
Best Pract Res Clin Obstet Gynaecol. 2017 Jan;38:97-107. doi: 10.1016/j.bpobgyn.2016.10.005. Epub 2016 Oct 20.
PMID:27923540
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT.
Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30.
PMID:27625340
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K.
Nature. 2025 Feb;638(8049):172-181. doi: 10.1038/s41586-024-08341-9. Epub 2025 Jan 1.
PMID:39743596
Baraitser-Winter Cerebrofrontofacial Syndrome.
Verloes A, Drunat S, Pilz D, Di Donato N.
2015 Nov 19 [updated 2022 Mar 24]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:26583190
Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.