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Paper Details

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with <i>SOX9</i> deletion.
Front Genet
2
2022
17q24, CD, Campomelic dysplasia, Cystic hygroma, SOX9, SOX9 protein-coding sequence, autosomal dominant skeletal malformation syndrome, campomelic dysplasia, copy number variants, cystic hygroma, protein-coding gene, shortness and bowing of the lower extremities, skeletal dysplasia
Author NameAffiliation
Jianmin WangWest China Second University Hospital, Sichuan University
Jianmin WangWest China Second University Hospital, Sichuan University
Jianmin WangKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University)
Tian TianKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University)
Tian TianWest China Second University Hospital, Sichuan University
Tian TianKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University)
Tian TianWest China Second University Hospital, Sichuan University
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Release 1.2