該雜志國際簡稱:CLIN DYSMORPHOL,是由出版商Lippincott Williams and Wilkins出版的一本致力于發(fā)布醫(yī)學(xué)研究新成果的的專業(yè)學(xué)術(shù)期刊。該雜志以GENETICS & HEREDITY研究為重點(diǎn),主要發(fā)表刊登有創(chuàng)見的學(xué)術(shù)論文文章、行業(yè)最新科研成果,扼要報道階段性研究成果和重要研究工作的最新進(jìn)展,選載對學(xué)科發(fā)展起指導(dǎo)作用的綜述與專論,促進(jìn)學(xué)術(shù)發(fā)展,為廣大讀者服務(wù)。該刊是一本國際優(yōu)秀雜志,在國際上有很高的學(xué)術(shù)影響力。
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant
Author: Pan, Xiang; Lu, Jun
英文介紹
Clinical Dysmorphology雜志英文介紹
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.