A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl [0.03%]
在中国女孩中可能与常染色体显性低丙种球蛋白血症相关的新SPI1变异(c.566T>C(p.Ile189Thr))
Ping Wu,Jing Zhao,Zilong Yu et al.
Ping Wu et al.
A Chinese girl with neuromyelitis optica spectrum disorder coexisting with primary Sjogren's syndrome: a case report and literature review [0.03%]
与中国青年女性视神经脊髓炎谱系障碍并原发性干燥综合征共病1例及文献复习
Guo-Qin Zhu,Rong-Xuan Hu,Yan Peng et al.
Guo-Qin Zhu et al.
Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated, typically relapsing central nervous system demyelinating disorder characterized by optic neuritis (ON) and transverse myelitis (TM). Whil...
Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia [0.03%]
Fanconi贫血症中国女孩(FANCA基因(c.2222G>A)同合子新突变病例报告
Wen Xianhao,Qin Hongcheng,Liao Meiling et al.
Wen Xianhao et al.
Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalit...
Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia [0.03%]
纠正文章：报道一名中国中枢性早熟患儿的新ARCN1剪接位点变异
Guoying Chang,Fan Yang,Lingwen Ying et al.
Guoying Chang et al.
Published Erratum
BMC pediatrics. 2025 Feb 1;25(1):88. DOI:10.1186/s12887-025-05466-2 2025
Identification of a novel mutation in the SERPING1 gene in a 17-year-old Chinese girl with type I hereditary angioedema [0.03%]
SERPING1基因新突变在中国I型遗传性血管水肿女患者中的鉴定
Wei Zhang,Hongwei Liu
Wei Zhang
Case Reports
JAAD case reports. 2024 Nov 10:56:38-39. DOI:10.1016/j.jdcr.2024.10.023 2024
Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay [0.03%]
长读段纳米孔测序鉴定出一个从新paracentric 倒位的精确断点，该倒位破坏了MEIS2基因，并导致一名中国女孩出现综合型发育迟缓症状
Jianxin Tan,Mingtao Huang,Xiuqing Ji et al.
Jianxin Tan et al.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosoma...
Case Reports
BMC pediatrics. 2025 Jan 9;25(1):18. DOI:10.1186/s12887-024-05267-z 2025
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia [0.03%]
ARCN1剪接位点变异导致一名中国女孩中枢性早熟、宫内生长受限、小头畸形和小下颌畸形
Guoying Chang,Fan Yang,Lingwen Ying et al.
Guoying Chang et al.
The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical featur...
Case Reports
BMC pediatrics. 2024 Dec 27;24(1):838. DOI:10.1186/s12887-024-05329-2 2024
A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature [0.03%]
一例LIG4综合征中国患者造血干细胞移植罕见病例报告及文献复习
Chenjia Jiang,Wenyang Wang,Yazhou Li et al.
Chenjia Jiang et al.
LIG4 syndrome is an exceptionally rare primary immune deficiency. It is an autosomal recessive genetic disease, falling within the spectrum of genetic disorders characterized by impaired DNA damage response mechanisms. Common clinical chara...
Secondary TFE3-Rearranged Renal Cell Carcinoma in a Chinese Girl Treated for Wilms Tumor: Case Report and Literature Review [0.03%]
中国一名曾治疗过肾母细胞瘤的女童继发TFE3重排肾癌病例报告及文献复习
Jing Chu,Lian Chen
Jing Chu
Background: With the development of modern medicine and the application of multimodal treatment strategies, the survival rate after childhood malignant tumors as well as the incidence of Secondary malignant neoplasm (SMN) have increased. Ca...
Late-Onset Panuveitis in a Chinese Girl with Sporadic Blau Syndrome: A Case Report [0.03%]
一位中国女童出现晚发性色素膜炎并散发Blau综合征的病例报告
Zicheng Ma,Xinxiao Gao,Siquan Zhu
Zicheng Ma
Introduction: Blau syndrome (BS) is a rare autoimmune disease. We report here an atypical case of BS. Case presentation: We present a c...
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