Rudnik-Schöneborn, Sabine; Senderek, Jan; Jen, Joanna C; Houge, Gunnar; Seeman, Pavel; Puchmajerová, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Jürgen; Ryan, Monique M; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Hübner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; ... (2013). Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology, 80(5), pp. 438-46. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/WNL.0b013e31827f0f66
Full text not available from this repository.Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Steinlin, Maja |
ISSN: |
0028-3878 |
Publisher: |
Lippincott Williams & Wilkins |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:41 |
Last Modified: |
05 Dec 2022 14:12 |
Publisher DOI: |
10.1212/WNL.0b013e31827f0f66 |
PubMed ID: |
23284067 |
Web of Science ID: |
000314159600011 |
URI: |
https://boris.unibe.ch/id/eprint/16580 (FactScience: 224248) |
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