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. 2024 Jun 6;17:156. doi: 10.1186/s12920-024-01902-x

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — (A) Prenatal ultrasound of the proband with polycystic kidney dysplasia at 16 weeks. (B) Prenatal ultrasound of the proband with encephalocele at 16 weeks. (C) The pedigree of the family: the outcomes of the first and fourth pregnancies were spontaneous abortion, the second pregnancy gives birth to a healthy girl and the third and fifth pregnancies lead to multiple malformations (polycystic kidney dysplasia, oligohydramnios and encephalocele). (D) Sanger sequence chromatogram of TMEM67 gene. Sanger sequencing showed that c.1415T > G (p.V472G) was heterozygous in the proband (II5) and father (I1), and c.2314del (p.M772*) was heterozygous in the proband (II5) and mother (I2). c.1415T > G (p.V472G) was not detected in mother and c.2314del (p.M772*) was not detected in father. Both variants were not detected in the sister (II2). (E) CNV-seq results of autosomal chromosomes in the proband. (F) CNV-seq results of X chromosome in the proband