Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect

Sara H. El‐Dessouky; Wessam E. Sharaf‐Eldin; Mona M. Aboulghar; Alaa Ebrashy; Sameh M. Senousy; Ahmed Ezz Elarab; Hassan M. Gaafar; Mohamed I. Ateya; Ahmed N. Abdelfattah; Ahmed K. Saad; Dalia S. Zolfokar; Mona M. Fouad; Rana Abdella; Marwa Sharaf; Mahmoud Y. Issa; Lova S. Matsa; Hany Aref; S. Soliman; Muhamed A. Al‐Bellehy; Nahla Abdelaziz; Mohamed E. ElHodiby; Haitham K. Abdou; Maha M. Eid; Maha S. Zaki; Ebtesam Abdalla

doi:10.1002/pd.6697

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Abstract

The present cohort expands the spectrum of serine biosynthesis disorders. Moreover, it illuminates the role of prenatal exome sequencing in lethal conditions constituting the most severe end of already-known human diseases.

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El‐Dessouky et al. (2024) studied this question.

synapsesocial.com/papers/69d806667392c8ce61bee650 https://doi.org/10.1002/pd.6697

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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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Abstract

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Cite This Study

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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Abstract

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Cite This Study

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