Integration of prenatal exome sequencing with extensive clinical phenotyping to assess fetal structural anomalies in a consanguineous cohort from Egypt

被引：0

作者：

El-Dessouky, Sara ^{[1
]}

Aboulghar, Mona ^{[2
]}

Maroofian, Reza ^{[3
]}

Abdelfattah, Ahmed ^{[1
]}

Eid, Maha ^{[4
,5
]}

Sharaf-Eldin, Wessam ^{[6
]}

Zaki, Maha

Ebrashy, Alaa ^{[2
]}

Gaafar, Hassan ^{[2
]}

Saad, Ahmed ^{[6
]}

Issa, Mahmoud ^{[7
]}

Alavi, Shahryar ^{[8
]}

Firoozfar, Zahra ^{[8
]}

Ateya, Mohamed ^{[2
]}

Fouad, Mona ^{[2
]}

Abdella, Rana ^{[2
]}

Elarab, Ahmed Ezz ^{[2
]}

Abdalla, Ebtesam ^{[9
]}

Abdel-Aziz, Nahla ^{[6
]}

Khaled, Haitham ^{[1
]}

Elhodiby, Mohamed ^{[10
]}

Senousy, Sameh ^{[1
]}

Tajsharghi, Homa ^{[11
]}

机构：

[1] Natl Res Ctr, Human Genet & GenomeRes Div, Prenatal Diag & Fetal Med Dept, Cairo, Egypt

[2] Cairo Univ, Dept Obstet & Gynecol, Fetal Med Unit, Cairo, Egypt

[3] Dept Neuromuscular Disorders, London, England

[4] Natl Res Ctr, Human Genet & GenomeRes Div, Dept Human Cytogenet, Cairo, Egypt

[5] Natl Res Ctr, Human Genet & GenomeRes Div, Dept Human Genet, Cairo, Egypt

[6] Natl Res Ctr, Human Genet & GenomeRes Div, Med Mol Genet Dept, Cairo, Egypt

[7] Natl Res Ctr, Human Genet & GenomeRes Div, Dept Clin Genet, Cairo, Egypt

[8] UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

[9] Alexandria Univ, Med Res Inst, Dept Human Genet, Cairo, Egypt

[10] MUST Univ, Dept Obstet & Gynecol, Fac Med, Cairo, Egypt

[11] Univ Skovde, Div Biomed, Skovde, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP03.015

引用

页码：951 / 952

页数：2