Bardet-Biedl综合征:临床和遗传学简介

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2022-08-23 DOI:10.1055/s-0042-1759534

Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, A. Nicotera, G. Farello, R. Chimenz, I. Ceravolo, V. Salpietro, E. Gitto, G. Ceravolo, G. Iapadre, G. Rosa, E. Pironti

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引用次数: 0

摘要

Bardet-Biedl综合征是一种遗传性多效性疾病，临床异质性高，伴有严重的多器官损害。临床表现包括原发性和继发性，主要表现为视网膜营养不良、智力低下、肥胖、多指畸形、男性性腺功能减退、肾脏异常等。至少有21种不同的基因被鉴定出来，它们都与初级纤毛的结构或功能有关。迄今为止，基因型与表型的相关性仍然很差。

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Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics

Abstract Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.

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来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.