新型鸟苷二磷酸-甘露糖焦磷酸化酶:贲门失弛缓症、肺活肿和智力残疾患者的一种变异。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY Clinical Dysmorphology Pub Date : 2023-01-01 DOI:10.1097/MCD.0000000000000433

Gunes Sager, Ayberk Türkyilmaz, Yasemin Dilek Hanedar, Hediye Pinar Günbey, Yasemin Akin

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Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability.

Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Departments of Pediatric Gastroenetrology, Radiology and Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey Correspondence to Gunes Sager, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Kartal, Istanbul, Turkey Tel: +905055983104; e-mail: sgunessenturk@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.