A novel missense variant inCHD7, a rare cause of CHARGE syndrome

Joslyn Peter; Meddaugh Hannah; Torres Jairo; Patrick-Esteve Jessica; Olister Staci; Mumphrey Christy; Zambrano Regina

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A novel missense variant inCHD7, a rare cause of CHARGE syndrome

机译：一种新的小型畸形变种INCHD7，一种罕见的充电综合征原因

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《Clinical dysmorphology》 |2020年第3期|共3页
作者
Joslyn Peter; Meddaugh Hannah; Torres Jairo; Patrick-Esteve Jessica; Olister Staci; Mumphrey Christy; Zambrano Regina;
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Louisiana State Univ Dept Pediat Div Neonatol Hlth Sci Ctr New Orleans New Orleans LA 70118 USA;

Louisiana State Univ Hlth Sci Ctr New Orleans Childrens Hosp New Orleans Dept Genet New Orleans;

Louisiana State Univ Dept Otolaryngol Hlth Sci Ctr New Orleans New Orleans LA 70118 USA;

Louisiana State Univ Dept Pediat Div Neonatol Hlth Sci Ctr New Orleans New Orleans LA 70118 USA;

Louisiana State Univ Dept Pediat Div Neonatol Hlth Sci Ctr New Orleans New Orleans LA 70118 USA;

Louisiana State Univ Dept Pediat Div Neonatol Hlth Sci Ctr New Orleans New Orleans LA 70118 USA;

Louisiana State Univ Dept Pediat Div Genet Hlth Sci Ctr New Orleans 200 Henry Clay Ave New;

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正文语种 eng
中图分类妇产科学;
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A novel missense variant inCHD7, a rare cause of CHARGE syndrome

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