豹综合征伴散发性PTPN11突变的沙特患者

Q3 Medicine

Case Reports in Dermatological Medicine Pub Date : 2023-01-01 DOI:10.1155/2023/4161574

Hussein M Alshamrani, Luai M Assaedi, Jumanah A Bahattab, Abdulrahman M Mohammad, Magdy R Abdulghani

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引用次数: 0

摘要

豹综合征(LS)是一种罕见的常染色体显性遗传或散发性遗传疾病，通常由蛋白酪氨酸磷酸酶非受体11型(PTPN11)基因的错义突变引起。由于其罕见和误诊的高机会，LS的流行病学概况是不完善的。据我们所知，这是沙特阿拉伯第二份记录PTPN11基因突变的报告。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.

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LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.

LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.

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来源期刊

Case Reports in Dermatological Medicine Medicine-Dermatology

CiteScore

1.50

自引率

0.00%

发文量

审稿时长

15 weeks