鲁宾斯坦-泰比综合征：一例罕见病例报告。 - Suppr

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超能文献

Rubinstein-Taybi Syndrome: A Rare Case Report.

作者信息

Tomar Suyash S, Supekar Bhagyashree B, Mukhi Jayesh, Singh Rajesh Pratap

机构信息

Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra, India.

出版信息

Indian Dermatol Online J. 2020 Mar 9;11(2):258-260. doi: 10.4103/idoj.IDOJ_108_19. eCollection 2020 Mar-Apr.

DOI:10.4103/idoj.IDOJ_108_19

PMID:32477995

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7247649/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d114/7247649/4129d59e05f7/IDOJ-11-258-g001.jpg

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Rubinstein-Taybi Syndrome: A Rare Case Report.鲁宾斯坦-泰比综合征：一例罕见病例报告。

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A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?一例具有一些与鲁宾斯坦-泰比综合征、类鲁宾斯坦-泰比综合征或多发性翼状胬肉综合征重叠的临床发现的病例：偶然发现还是一种新的疾病实体？

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Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome.

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Dominant inheritance of a syndrome similar to Rubinstein-Taybi.一种类似于鲁宾斯坦-泰比综合征的显性遗传。

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本文引用的文献

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.杜氏综合征是一种复杂的疾病，由多种具有不同遗传基础和表型重叠的疾病组成。

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

Rubinstein-Taybi syndrome: a report of two siblings with unreported cutaneous stigmata.鲁宾斯坦-泰比综合征：两例患有未报告皮肤特征的同胞病例报告。

Indian J Dermatol Venereol Leprol. 2013 Sep-Oct;79(5):714-7. doi: 10.4103/0378-6323.116751.

Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征

Eur J Hum Genet. 2006 Sep;14(9):981-5. doi: 10.1038/sj.ejhg.5201594. Epub 2006 Jul 26.

Goeminne syndrome (OMIM 314300): another male patient 30 years later.戈明内综合征（OMIM 314300）：30年后的另一名男性患者。

Genet Couns. 2003;14(1):109-11.

Rubinstein-Taybi syndrome. Cutaneous manifestations and colossal keloids.鲁宾斯坦-泰比综合征。皮肤表现与巨大瘢痕疙瘩。

Arch Dermatol. 1981 Aug;117(8):504-6. doi: 10.1001/archderm.117.8.504.

A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome).

J Pediatr. 1988 Oct;113(4):703-6. doi: 10.1016/s0022-3476(88)80384-6.

Rubinstein-Taybi syndrome in a mother and son.

Eur J Pediatr. 1989 Feb;148(5):439-41. doi: 10.1007/BF00595907.

Rubinstein-Taybi syndrome: a natural history study.鲁宾斯坦-泰比综合征：一项自然病史研究。

Am J Med Genet Suppl. 1990;6:30-7. doi: 10.1002/ajmg.1320370605.

Rubinstein-Taybi syndrome and spontaneous keloids.

Clin Exp Dermatol. 1979 Jun;4(2):251-4. doi: 10.1111/j.1365-2230.1979.tb01627.x.

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