160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome-Reference-Cited by-同舟云学术

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

Published:2013-12 Issue:12 Volume:56 Page:689-694
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Czeschik Johanna Christina,Hehr Ute,Hartmann Britta,Lüdecke Hermann-Josef,Rosenbaum Thorsten,Schweiger Bernd^ORCID,Wieczorek Dagmar

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

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4. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy;Bisgaard;Clin. Genet.,2009

5. A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome;Blumkin;J. Neurol.,2012

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1. Congenital disorders of glycosylation and infantile epilepsy;Epilepsy & Behavior;2023-05

2. A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family;Genes & Genomics;2022-08-11

3. Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration;Frontiers in Pediatrics;2021-08-18

4. Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations;European Journal of Ophthalmology;2021-05-12

5. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions;Experimental Neurology;2021-01