Literature DB >> 26471711

Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene.

I Ochando1, V Vidal2, J Gascón2, M Acién2,3, A Urbano1, J Rueda1,4.   

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Year:  2015        PMID： 26471711     DOI： 10.3109/01443615.2015.1086982

Source DB:  PubMed          Journal:  J Obstet Gynaecol        ISSN： 0144-3615            Impact factor:   1.246


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  2 in total

1.  Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus.

Authors:  Hang Zhou; Qiuxia Yu; Yingsi Li; Fang Fu; Ru Li; Guilan Chen; Dan Wang; Yan Lu; Xin Yang; Dongzhi Li; Can Liao
Journal:  Front Genet       Date:  2022-04-29       Impact factor: 4.772

2.  L1CAM variants cause two distinct imaging phenotypes on fetal MRI.

Authors:  Andrea Accogli; Stacy Goergen; Giana Izzo; Kshitij Mankad; Karina Krajden Haratz; Cecilia Parazzini; Michael Fahey; Lara Menzies; Julia Baptista; Lucia Carpineta; Domenico Tortora; Ezio Fulcheri; Valerio Gaetano Vellone; Dario Paladini; Luigina Spaccini; Valentina Toto; Claire Trayers; Liat Ben Sira; Adi Reches; Gustavo Malinger; Vincenzo Salpietro; Patrizia De Marco; Myriam Srour; Federico Zara; Valeria Capra; Andrea Rossi; Mariasavina Severino
Journal:  Ann Clin Transl Neurol       Date:  2021-09-12       Impact factor: 4.511
  2 in total

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