PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-01-01 DOI:10.1097/MCD.0000000000000442

Louise J Apperley, Shadi Albaba, Poonam Dharmaraj, Meena Balasubramanian

引用次数: 2

Abstract

Department of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, Sheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Department of Oncology and Metabolism, University of Sheffield, Sheffield Clinical Genetics Service and Highly Specialised Severe, Complex and Atypical Osteogenesis Imperfecta Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK Correspondence to Meena Balasubramanian, MD, Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK Tel: +44 114 2717025; fax: +44 114 2737467; e-mail: m.balasubramanian@sheffield.ac.uk; meena.balasubramanian@nhs.net

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PLS3全基因缺失作为x连锁骨质疏松症的原因:临床报告并回顾已发表的PLS3文献

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.