Dyskeratosis Congenita with Portal Hypertension and Oesophageal Webs: A Case Report

被引：0

作者：

Khuraiya, Sandeep ^{[1
]}

Raidas, Ramesh ^{[1
]}

Jain, Vinod ^{[1
]}

Kachhwaha, Dilip ^{[1
]}

机构：

[1] Dr SN Med Coll, Dept Dermatol Venerel & Leprosy, Jodhpur, Rajasthan, India

来源：

INDIAN JOURNAL OF DERMATOLOGY | 2021年 / 66卷 / 02期

关键词：

MUTATIONS;

D O I：

10.4103/ijd.IJD_113_16

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页数：2

共 4 条

[1] The role of telomere biology in bone marrow failure and other disorders [J].

Savage, Sharon A. ;

Alter, Blanche P. .

MECHANISMS OF AGEING AND DEVELOPMENT, 2008, 129 (1-2) :35-47

[2] DYSKERATOSIS CONGENITA - AN AUTOSOMAL DOMINANT DISORDER [J].

TCHOU, PK ;

KOHN, T .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1982, 6 (06) :1034-1039

[3] Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation [J].

Vulliamy, TJ ;

Marrone, A ;

Knight, SW ;

Walne, A ;

Mason, PJ ;

Dokal, I .

BLOOD, 2006, 107 (07) :2680-2685

[4] Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 [J].

Walne, Amanda J. ;

Vulliamy, Tom ;

Marrone, Anna ;

Beswick, Richard ;

Kirwan, Michael ;

Masunari, Yuka ;

Al-Qurashi, Fat-hia ;

Aljurf, Mahmoud ;

Dokal, Inderjeet .

HUMAN MOLECULAR GENETICS, 2007, 16 (13) :1619-1629

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