Genetic analysis of two cases with Smith-Magenis syndrome

doi:10.11852/zgetbjzz2023-0785

Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (5): 576-580.DOI: 10.11852/zgetbjzz2023-0785

• Case Report • Previous Articles

Genetic analysis of two cases with Smith-Magenis syndrome

FENG Xuan, ZHU Shaohua, LIN Pengwu, et al

Received:2023-08-03 Revised:2023-10-16 Online:2024-05-10 Published:2024-05-10

Smith-Magenis综合征患儿2例遗传学分析

冯暄^1,2, 朱韶华^1,2, 蔺朋武^1,2, 贾春暘^1,2, 张钏^1,2, 何静^1,2, 张庆华^1,2

1.甘肃省妇幼保健院医学遗传中心,甘肃兰州 730050;
2.甘肃省出生缺陷与罕见病临床医学研究中心,甘肃兰州 730050

通讯作者: 张庆华,E-mail:17977233@qq.com
作者简介:冯暄(1983-),女,主管检验师,硕士学位,主要研究方向为儿童罕见病的分子遗传学研究。
基金资助:
甘肃省科技计划资助(21JR7RA680,22YF7FA094,21JR1RA045);兰州市科技计划项目资助(2017-4-50)

Abstract

关键词: Smith-Magenis综合征, 17p11.2缺失, RAI基因, 低深度全基因组测序

CLC Number:

R725.9

FENG Xuan, ZHU Shaohua, LIN Pengwu, et al. Genetic analysis of two cases with Smith-Magenis syndrome[J]. Chinese Journal of Child Health Care, 2024, 32(5): 576-580.

冯暄, 朱韶华, 蔺朋武, 贾春暘, 张钏, 何静, 张庆华. Smith-Magenis综合征患儿2例遗传学分析[J]. 中国儿童保健杂志, 2024, 32(5): 576-580.

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Genetic analysis of two cases with Smith-Magenis syndrome

Smith-Magenis综合征患儿2例遗传学分析

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