Publications:

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.

World Journal Of Pediatrics : Wjp

Wang, Wei W; Gao, Si-Hao SH; Wei, Min M; Zhong, Lin-Qing LQ; Liu, Wei W; Jian, Shan S; Xiao, Juan J; Zhang, Cai-Hui CH; Zhang, Jian-Guo JG; Zeng, Xiao-Feng XF; Xia, Wei-Bo WB; Qiu, Zheng-Qing ZQ; Song, Hong-Mei HM

Publication Date: 2023-01-09

Variant appearance in text: ESR: 156C>A

PubMed Link: 36622578

Variant Present in the following documents:

• 12519_2022_Article_674.pdf

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WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.

Bone & Joint Research

Madhuri, V V; Santhanam, M M; Rajagopal, K K; Sugumar, L K LK; Balaji, V V

Publication Date: 2016-07

Variant appearance in text: ESR: 156C>A

PubMed Link: 27436824

Variant Present in the following documents:

• Main text

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Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

Scientific Reports

Rai, Ekta E; Mahajan, Ankit A; Kumar, Parvinder P; Angural, Arshia A; Dhar, Manoj K MK; Razdan, Sushil S; Thangaraj, Kumarasamy K; Wise, Carol A CA; Ikegawa, Shiro S; Pandita, Kamal Kishore KK; Sharma, Swarkar S

Publication Date: 2016-06-13

Variant appearance in text: ESR: 156C>A

PubMed Link: 27291587

Variant Present in the following documents:

• srep27684.pdf

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