Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct

Published:2024-02-13 Issue:5 Volume:32 Page:545-549
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nicolle Romain^ORCID,Boutaud Lucile,Loeuillet Laurence,Talhi Naima,Grotto Sarah,Bourgon Nicolas,Feresin Agnese,Coussement Aurélie,Barrois Mathilde,Beaujard Marie-Paule,Rambaud Thomas^ORCID,Razavi Férechté,Attié-Bitach Tania^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01558-2.pdf

Reference29 articles.

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2. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet Lond Engl. 2019;393:747–57. https://doi.org/10.1016/S0140-6736(18)31940-8.

3. Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet Lond Engl. 2019;393:758–67. https://doi.org/10.1016/S0140-6736(18)32042-7.

4. McKechnie L, Vasudevan C, Levene M. Neonatal outcome of congenital ventriculomegaly. Semin Fetal Neonatal Med. 2012;17:301–7. https://doi.org/10.1016/j.siny.2012.06.001.

5. Gaglioti P, Danelon D, Bontempo S, Mombrò M, Cardaropoli S, Todros T. Fetal cerebral ventriculomegaly: outcome in 176 cases. Ultrasound Obstet Gynecol J Int Soc Ultrasound Obstet Gynecol. 2005;25:372–7. https://doi.org/10.1002/uog.1857.

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