II型小头骨塑型原发性侏儒症与2型良性家族性婴儿惊厥的双重诊断：一例报告 - Suppr

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Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report.

作者信息

Zhu Shuyao, Wang Jin, Zhu Hui, Wang Qiyan, Tang Bei, Xiong Fu, Luo Zemin, Chen Ai, Wang Xueyan, Leng Xiangyou, Zeng Lan

机构信息

Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital.

Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital.

出版信息

Clin Dysmorphol. 2024 Apr 1;33(2):83-86. doi: 10.1097/MCD.0000000000000493. Epub 2024 Feb 6.

DOI:10.1097/MCD.0000000000000493

PMID:38441202

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10911253/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/441e/10911253/5c2118fb00b5/cd-33-83-g001.jpg

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