Literature DB >> 2407865

Antenatal sonographic appearance of spondyloepiphyseal dysplasia congenita.

J S Kirk1, C H Comstock.   

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Year:  1990        PMID: 2407865     DOI: 10.7863/jum.1990.9.3.173

Source DB:  PubMed          Journal:  J Ultrasound Med        ISSN: 0278-4297            Impact factor:   2.153


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  1 in total

1.  A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing.

Authors:  Lihong Fan; Longfei Ji; Yuqing Xu; Guosong Shen; Kefeng Tang; Zhi Li; Sisi Ye; Xueping Shen
Journal:  Front Genet       Date:  2022-04-05       Impact factor: 4.772

  1 in total

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