Case Report: Potocki-Lupski Syndrome in Five Siblings.

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作者： Alina,Grama ^[1] ; Claudia,Sîrbe ^[2] ; Diana,Miclea ^[1] ; Simona Sorana,Cǎinap ^[2] ; Delia,Huniadi ^[3] ; Bogdan,Bulata ^[1] ; Tudor Lucian,Pop ^[2]

作者单位： Second Pediatric Discipline, Department of Mother and Child, University of Medicine and Pharmacy Iuliu Hațieganu, Cluj-Napoca, Romania. ^[1] Second Pediatric Clinic, Emergency Clinical Hospital for Children, Cluj-Napoca, Romania. ^[2] Discipline of Medical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy Iuliu Hațieganu, Cluj-Napoca, Romania. ^[3] Discipline of Neurology, University of Medicine and Pharmacy Iuliu Hațieganu, Cluj-Napoca, Romania. ^[4] Pediatric Nephrology, Dialysis and Toxicology Clinic, Emergency Clinical Hospital for Children, Cluj-Napoca, Romania. ^[5]

关键词 17p112 duplication Potocki-Lupski syndrome children cognitive delay craniofacial dysmorphism hypotonia

DOI 10.3389/fped.2021.698629

PMID 34820340

发布时间 2021-11-26

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Frontiers in pediatrics

2021年9卷

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Case Report: Potocki-Lupski Syndrome in Five Siblings.

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Case Report: Potocki-Lupski Syndrome in Five Siblings.

Frontiers in pediatrics

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Frontiers in pediatrics

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