史密斯-马吉尼斯综合征的鉴别诊断：1p36缺失综合征。 - Suppr

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

作者信息

Vieira Gustavo H, Rodriguez Jayson D, Boy Raquel, de Paiva Isaias Soares, DuPont Barbara R, Moretti-Ferreira Danilo, Srivastava Anand K

机构信息

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA.

出版信息

Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7.

DOI:10.1002/ajmg.a.33960

PMID:21480478

Abstract

摘要

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7.

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19.

Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues.

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Prenatal diagnosis and neonatal phenotype of a microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.

J Genet. 2020;99.

[Genetic diagnosis of a case of Smith-Magenis syndrome due to a rare small-scale deletion].

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Sleep Coaching for Sleep Inversion in Smith-Magenis Syndrome.

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[Clinical and genetic study of a case with Smith-Magenis syndrome].

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Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

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