Two cases of TSC2/PKD1 contiguous gene deletion syndrome | Zendy

Jihye You | Zendy; Eungu Kang | Zendy; Yoon-Myung Kim | Zendy; Beom Hee Lee | Zendy; TaeSung Ko | Zendy; Gu-Hwan Kim | Zendy; JinHo Choi | Zendy; HanWook Yoo | Zendy

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Two cases of TSC2/PKD1 contiguous gene deletion syndrome

Author(s) -

Jihye You,

Eungu Kang,

Yoon-Myung Kim,

Beom Hee Lee,

TaeSung Ko,

Gu-Hwan Kim,

JinHo Choi,

HanWook Yoo

Publication year - 2016

Publication title -

journal of genetic medicine

Language(s) - English

Resource type - Journals

eISSN - 2233-9108

pISSN - 1226-1769

DOI - 10.5734/jgm.2016.13.1.36

Subject(s) - tsc2 , pkd1 , tsc1 , multiplex ligation dependent probe amplification , tuberous sclerosis , autosomal dominant polycystic kidney disease , epilepsy , biology , genetics , pathology , medicine , cyst , gene , exon , neuroscience , apoptosis , pi3k/akt/mtor pathway

[2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bilateral renal cysts leading to renal failure in the fifth to seventh decade of life. Occasionally, liver cysts and intracranial aneurysm may occur. Mutations in PKD1 on 16p13.3, encoding polycystin 1, or PKD2 on 4q22, encoding Two cases of TSC2/PKD1 contiguous gene deletion syndrome

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