Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome-Reference-Cited by-同舟云学术

Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome

Author:

Song Xiao¹,Wang Xueyan¹^ORCID,Ding Li²,He Dan³,Sun Jin⁴,Xi Na¹,Yin Yan¹,Peng Hui⁵,Sun Lingling¹

Affiliation:

1. Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu Sichuan China

2. Department of Radiology Sichuan Provincial Hospital for Women and Children Chengdu Sichuan China

3. Department of Maternal and Child Health Management Sichuan Provincial Hospital for Women and Children Chengdu Sichuan China

4. Department of Pharmacy Sichuan Provincial Hospital for Women and Children Chengdu Sichuan China

5. Department of Ultrasound Sichuan Provincial Hospital for Women and Children Chengdu Sichuan China

Funder

Department of Science and Technology of Sichuan Province

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

Reference44 articles.

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