Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia—a report of six pregnancies-Reference-Cited by-同舟云学术

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Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia—a report of six pregnancies

Published:2006 Issue:9 Volume:26 Page:861-865
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Chitty Lyn S.,Tan Aileen W. C.,Nesbit Debbie L.,Hall Christine M.,Rodeck Charles H.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference19 articles.

1. . 1990. Achondroplasia. In Birth Defects Encyclopedia, (ed.). Massachusetts: Cambridge; 11–12.

2. The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

3. Second Trimester Diagnosis of Fetal Skeletal Dysplasias

4. Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length.

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1. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing;Frontiers in Genetics;2022-04-05

2. Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders;Genetic Disorders and the Fetus;2021-04-20

3. Diagnosis and Management of Fetal Skeletal Abnormalities;Fetal Medicine;2020

4. A sonographic approach to the prenatal diagnosis of skeletal dysplasias;Prenatal Diagnosis;2019-07-14

5. Spondyloepiphyseal Dysplasia Congenita;Obstetric Imaging: Fetal Diagnosis and Care;2018

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