中文簡(jiǎn)介

該雜志將發(fā)表多種先天性異常綜合征的報(bào)告和關(guān)于先天缺陷的病因?qū)W、臨床描述、遺傳圖譜和分子胚胎學(xué)的原始研究和綜述文章。《華爾街日?qǐng)?bào)》認(rèn)為:綜述了病因?qū)W、證候分類、異質(zhì)性、自然歷史和成體表型。原來的文章。這些可以是三種類型:a)綜合征報(bào)告-這些應(yīng)該包括幾個(gè)病例或整個(gè)家庭，包括詳細(xì)的臨床報(bào)告，適當(dāng)?shù)臏y(cè)量和調(diào)查結(jié)果。個(gè)案報(bào)告應(yīng)采用簡(jiǎn)短的報(bào)告格式;b)分子遺傳學(xué)主題;c)細(xì)胞遺傳異常。簡(jiǎn)短的案例報(bào)告。這些報(bào)告應(yīng)該包括一個(gè)關(guān)鍵特性列表、摘要、帶有相關(guān)圖片和表格的調(diào)查、一個(gè)簡(jiǎn)短的討論和參考文獻(xiàn)。可以按照本文的類型提交簡(jiǎn)要的或單個(gè)的案例報(bào)告。通訊:與以前發(fā)表的論文有關(guān)。會(huì)議報(bào)告及摘要。提交的文章要經(jīng)過編輯的初步審查。有些文章可能不經(jīng)進(jìn)一步考慮就退回作者。那些被考慮出版的將由編輯進(jìn)行進(jìn)一步的評(píng)估和同行評(píng)審，那些被邀請(qǐng)出版的將由董事會(huì)和評(píng)審團(tuán)進(jìn)行評(píng)審。

　　英文簡(jiǎn)介

The Journal will publish reports of multiple congenital anomaly syndromes and original studies and review articles on the aetiology, clinical delineation, genetic mapping and molecular embryology of birth defects. The Journal considers the following:Reviews that discuss aetiology, syndrome classification, heterogeneity, natural history and adult phenotypes.Original Articles. These can be of three types: a) syndrome reports - these should include several cases or a whole family and include detailed clinical reports, appropriate measurements and results of investigations. Reports of single cases should go in the short report format; b) on molecular genetic topics; c) on cytogenetic aberrations.Short case reports. These reports should include a list of key features, summary, investigations with relevant images and tables, a brief discussion, and references. Brief or single case reports can be submitted as this article type.Correspondence: relating to previously published papers.Conference/meeting reports and abstracts.Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors without further consideration. Those being considered for publication will undergo further assessment and peer-review by the editor and those invited to do so from the board and reviewer pool.

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