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Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

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Title: Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Authors: Saad AK; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hassan NH; Zoology Department, Faculty of Science, Ain Shams University, Cairo, Egypt., Soliman HN; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Senousy SM; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., El-Dessouky SH; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Source: Clinical genetics [Clin Genet] 2025 Jun; Vol. 107 (6), pp. 673-679. Date of Electronic Publication: 2025 Jan 06.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Saad+AK%22">Saad AK</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Hassan+NH%22">Hassan NH</searchLink>; Zoology Department, Faculty of Science, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Soliman+HN%22">Soliman HN</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Senousy+SM%22">Senousy SM</searchLink>; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Dessouky+SH%22">El-Dessouky SH</searchLink>; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
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        Value: 10.1111/cge.14695
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