Prenatal Diagnosis of Ellis–van Creveld Syndrome by Targeted Sequencing
نویسندگان
چکیده
منابع مشابه
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
BACKGROUND Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias ...
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متن کاملEllis-van Creveld Syndrome.
A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2016
ISSN: 0366-6999
DOI: 10.4103/0366-6999.186634