Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
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| Title: | Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect. |
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| Authors: | El-Dessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Sharaf-Eldin WE; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ebrashy A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Senousy SM; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elarab AE; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Gaafar HM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ateya MI; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdelfattah AN; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Saad AK; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zolfokar DS; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Fouad MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdella RM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Sharaf MF; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Matsa LS; Genomic Precision Diagnostic Department, Igenomix, Paterna, Spain., Aref H; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Soliman SH; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Al-Bellehy MA; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdel-Aziz NN; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., ElHodiby ME; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdou HK; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt. |
| Source: | Prenatal diagnosis [Prenat Diagn] 2025 Feb; Vol. 45 (2), pp. 204-217. Date of Electronic Publication: 2024 Dec 05. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1097-0223 |
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| DOI: | 10.1002/pd.6697 |
