新生儿鱼鳞病-硬化性胆管炎综合征:一种新的突变报告和文献综述。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-04-01 DOI:10.1097/MCD.0000000000000451

Engin Demir, Ceyda Tuna Kirsaçlioğlu, İnci Nur Saltik-Temizel, Gizem Ürel-Demir, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Zarife Kuloğlu, Aydan Kansu

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Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Department of Pediatric Genetics, Department of Pediatrics and Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey Correspondence to Engin Demir, MD, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara 06590, Turkey Tel: +90 505 395 04 45; e-mail: engindemir777@gmail.com

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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.