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Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses

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Year: 2026
Type: article
Source: Prenatal Diagnosis
DOI: 10.1002/pd.70128
Authors: Ping Wang, Yan Wang, Jingjing He, Hanbing Xie, He Wang, Xin Chen, Ting Hu, Shanling Liu
Institutions: Sichuan University, West China Second University Hospital of Sichuan University, Third People's Hospital of Chengdu, Southwest Jiaotong University
Language: English

Topic: Congenital limb and hand anomalies
Subfield: Developmental Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Natural Science Foundation of Sichuan Province, National Key Research and Development Program of China
Awards: G2112040545, G6027442261, G8682013480
OpenAlex ID: W7142337124
FWCI:
Cites: 5
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