Lethal Skeletal Dysplasia in Fetus With Novel COL1A1 Variant

被引：0

作者：

Wang, Michelle J. ^{[1
]}

Schioppo, Davia ^{[1
]}

Donovan, Bridget M. ^{[1
]}

Febres-Cordero, Daniela A. ^{[1
]}

Connolly, Susan ^{[2
]}

Robinson, Julian ^{[1
]}

Duffy, Cassandra R. ^{[1
,2
]}

机构：

[1] Beth Israel Deaconess Med Ctr, Dept Obstet & Gynecol, Div Maternal Fetal Med, Boston, MA 02215 USA

[2] Boston Childrens Hosp, Maternal Fetal Care Ctr, Boston, MA USA

来源：

PRENATAL DIAGNOSIS | 2024年 / 44卷 / 11期

关键词：

COL1A1; congenital malformation; osteogenesis; prenatal diagnosis; skeletal dysplasia; whole exome sequencing; OSTEOGENESIS IMPERFECTA; PRENATAL-DIAGNOSIS; RECURRENCE; MOSAICISM;

D O I：

10.1002/pd.6652

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：1412 / 1415

页数：4

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[21] A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome [J].

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Ishihara, Yuki ;

Kusakabe, Toru ;

Tsuiki, Mika ;

Nanba, Kazutaka ;

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Nomura, Takumi ;

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[22] Intrafamilial Variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene [J].

CohenSolal, L ;

Zolezzi, F ;

Pignatti, PF ;

Mottes, M .

MOLECULAR AND CELLULAR PROBES, 1996, 10 (03) :219-225

[23] RNAi of COL1A1 in mesenchymal progenitor cells [J].

Millington-Ward, S ;

McMahon, HP ;

Allen, D ;

Tuohy, G ;

Kiang, AS ;

Palfi, A ;

Kenna, PF ;

Humphries, P ;

Farrar, GJ .

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[24] The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta [J].

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[25] Diagnostic Conundrums in Antenatal Presentation of a Skeletal Dysplasia with Description of a Heterozygous C-Propeptide Mutation in COL1A1 Associated with a Severe Presentation of Osteogenesis Imperfecta [J].

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Hu, Wei-Wei ;

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[27] Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? [J].

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Nishimura, G. ;

Coucke, I. P. J. ;

Mortier, G. ;

Sugita, K. .

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Monnot, S. ;

Cardozo-Amaya, Y. J. ;

Baujat, G. ;

Michot, C. ;

Fournier, B. P. J. ;

Riou, M. C. ;

Caldas Rosa, E. C. C. ;

Soares de Lima, Y. ;

dos Santos, P. A. C. ;

Alcaraz, G. ;

Guerra, E. N. S. ;

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