Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

doi:10.1111/cge.12991

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Article

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Clinical genetics - 1 Aug 2017

Iwama Kazuhiro, Mizuguchi Takeshi, Takanashi Jun-Ichi, Shibayama Hidehiro, Shichiji Minobu, Ito Susumu, Oguni Hirokazu, Yamamoto Toshiyuki, Sekine Akiko, Nagamine Shun, Ikeda Yoshio, Nishida Hiroya, Kumada Satoko, Yoshida Takeshi, Awaya Tomonari, Tanaka Ryuta, Chikuchi Ryo, Niwa Hisayoshi, Oka Yu-Ichi, Miyatake Satoko, Nakashima Mitsuko, Takata Atsushi, Miyake Noriko, Ito Shuichi, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal...

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PMID: 28177126
DOI: 10.1111/cge.12991

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CTC1

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