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.

Afiliación

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 en En | MEDLINE | ID: mdl-35752817

Asunto(s)

Glicoproteínas de Membrana/metabolismo; Proteínas de Microfilamentos/metabolismo; Osteoporosis; Enfermedades Raras; Adolescente; Densidad Ósea/genética; Niño; Difosfonatos/uso terapéutico; Estudios de Asociación Genética; Humanos; Glicoproteínas de Membrana/genética; Glicoproteínas de Membrana/uso terapéutico; Proteínas de Microfilamentos/genética; Mutación/genética; Osteoporosis/tratamiento farmacológico; Osteoporosis/genética; Enfermedades Raras/tratamiento farmacológico; Estudios Retrospectivos

Palabras clave

Mutation; PLS3 gene; Phenotype; Primary osteoporosis; Scoliosis

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteoporosis / Glicoproteínas de Membrana / Enfermedades Raras / Proteínas de Microfilamentos Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article

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