Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.

Wu, Zhichong; Feng, Zhenhua; Zhu, Xiufen; Dai, Zhicheng; Min, Kaixing; Qiu, Yong; Yi, Long; Xu, Leilei; Zhu, Zezhang

Wu, Zhichong; Feng, Zhenhua; Zhu, Xiufen; Dai, Zhicheng; Min, Kaixing; Qiu, Yong; Yi, Long; Xu, Leilei; Zhu, Zezhang.

Afiliação

Wu Z; Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Feng Z; Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing & Hong Kong, China.
Zhu X; Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Dai Z; Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing & Hong Kong, China.
Min K; Osteoporosis and Metabolic Bone Disease Center, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Qiu Y; Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Yi L; Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing & Hong Kong, China.
Xu L; Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Zhu Z; Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing & Hong Kong, China.

Orphanet J Rare Dis ; 17(1): 247, 2022 06 25.

Article em En | MEDLINE | ID: mdl-35752817

Assuntos

Glicoproteínas de Membrana/metabolismo; Proteínas dos Microfilamentos/metabolismo; Osteoporose; Doenças Raras; Adolescente; Densidade Óssea/genética; Criança; Difosfonatos/uso terapêutico; Estudos de Associação Genética; Humanos; Glicoproteínas de Membrana/genética; Glicoproteínas de Membrana/uso terapêutico; Proteínas dos Microfilamentos/genética; Mutação/genética; Osteoporose/tratamento farmacológico; Osteoporose/genética; Doenças Raras/tratamento farmacológico; Estudos Retrospectivos

Palavras-chave

Mutation; PLS3 gene; Phenotype; Primary osteoporosis; Scoliosis

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteoporose / Glicoproteínas de Membrana / Doenças Raras / Proteínas dos Microfilamentos Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google