CDH3相关性毛少症伴幼年黄斑营养不良患者的临床、遗传和电镜研究

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-04-01 DOI:10.1097/MCD.0000000000000449

Ricardo Leal-Rodríguez, Tania Barragán-Arévalo, Armando Pérez-Torres, David M Giraldo-Gómez, Juan Carlos Zenteno

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Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.

Retina Department, Instituto de Enfermedades y Cirugía Ocular (IECO), García Ginerés, Mérida Yucatán, Genetics Department, Institute of Ophthalmology ‘Conde de Valenciana’, Cell and Tissue Biology Department, Microscopy Core Facility and Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico Correspondence to Juan Carlos Zenteno, PhD, Department of Genetics, Institute of Ophthalmology ‘Conde de Valenciana’s, Chimalpopoca 14, Col. Obrera, Mexico City 06800, Mexico Tel: +52 55 54 42 17 00 ext 3212; e-mail: jczenteno@institutodeoftalmologia.org

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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.