Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs
收藏DataCite Commons2021-05-21 更新2024-07-27 收录
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https://tandf.figshare.com/articles/dataset/Prenatal_diagnosis_of_Desbuquois_dysplasia_type_1_by_whole_exome_sequencing_before_the_occurrence_of_specific_ultrasound_signs/9810395/1
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资源简介：
Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism. Here, we report a case for which whole exome sequencing allowed early prenatal diagnosis of Desbuquois dysplasia before the detection of characteristic ultrasound signs of the disease.
提供机构：
Taylor & Francis
创建时间：
2019-09-12
