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Article

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Neurogenetics - 1 Nov 2013

Ohba Chihiro, Osaka Hitoshi, Iai Mizue, Yamashita Sumimasa, Suzuki Yume, Aida Noriko, Shimozawa Nobuyuki, Takamura Ayumi, Doi Hiroshi, Tomita-Katsumoto Atsuko, Nishiyama Kiyomi, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Eto Yoshikatsu, Tanaka Fumiaki, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of clinical features and neuroimaging can lead to correct diagnosis of disorders, their diagnosis is sometimes difficult because clinical features can overlap with each other. In this study, we performed family-based whole exome sequencing of 23 families...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24091540
DOI: 10.1007/s10048-013-0375-8

Genes

FOLR1
PEX16
TPP1
CACNA1A
ITPR1
POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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