An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing

Sakuraya, Koji; Nozu, Kandai; Murakami, Hitohiko; Nagano, China; Horinouchi, Tomoko; Fujinaga, Shuichiro; Iijima, Kazumoto; Ohtomo, Yoshiyuki

doi:10.1007/s13730-021-00574-1

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2023

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Cited by 2 publications

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“… 10 Finally, we analyzed 108 patients with clinical data. 1 , 2 , 7 , 8 , 9 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41

Figure 1 Flowchart of the literature search. HGMD, Human Gene Mutation Database.…”

Section: Methodsmentioning

confidence: 99%

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

Suzuki

Sakakibara

Ichikawa

et al. 2023

Kidney International Reports

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Figure 1 Flowchart of the literature search. HGMD, Human Gene Mutation Database.…”

Section: Methodsmentioning

confidence: 99%

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

Suzuki

Sakakibara

Ichikawa

et al. 2023

Kidney International Reports

Self Cite

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Atypical features in two adult patients with Cockayne syndrome and analysis of genotype–phenotype correlation

Cheng

Chen

et al. 2023

Chinese Medical Journal

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To the Editor: Cockayne syndrome (CS; Mendelian Inheritance in Man # 133540, 216400) is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936. [1] The prevalence of CS is 2.7 per million live births, [2] and the disease is probably underdiagnosed. The major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a "cachectic dwarfism" appearance with sunken eyes, cutaneous photosensitivity, mental retardation, demyelinating peripheral neuropathy, pigmentary retinopathy, cataracts, deafness, dental anomalies, and premature death. [1,3] There is considerable variation in the severity of the disorder, leading to classification into three main types.

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An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing

Cited by 2 publications

References 13 publications

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype–phenotype correlation

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