Associated Papers
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2021
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.
Barbosa EA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
[Clinical and genetic analysis of a patient with cutis laxa].
Zhang P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.
Jang HM et al.
Bmc Genomics, 2014
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.
Bahena-Bahena D et al.
Molecular Genetics and Metabolism Reports, 2014
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B et al.
Human Genetics, 2012
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U et al.
Nature Genetics, 2008
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