Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

Towheed, A., Hietanen, C. L., Kamath, V. G., Singh, L. N., Ho, A., Engelstad, K., Cornett, K., Montes, J., & De Vivo, D. (2021). Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression. Annals of Clinical and Translational Neurology, 8(11), 2199–2204. Portico. https://doi.org/10.1002/acn3.51464
Authors:
Atif Towheed
Christian L. Hietanen
Vasudeva G. Kamath
Larry N. Singh
Angela Ho
Kristin Engelstad
Kayla Cornett
Jacqueline Montes
Darryl De Vivo
Affiliated Authors:
Kristin Engelstad
Kayla Cornett
Jacqueline Montes
Darryl De Vivo
Columbia Affiliation:
Subjects:
Role of Homocysteine in Health and Disease (OpenAlex Topic)
Metabolic Disorders and Biochemical Genetics (OpenAlex Topic)
Amino Acid Transport and Metabolism in Health and Disease (OpenAlex Topic)
Craniofacial Abnormalities (MeSH)
Cystinuria (MeSH)
Intellectual Disability (MeSH)
Mitochondrial Diseases (MeSH)
Muscle Hypotonia (MeSH)
elink
Publication Type:
Article
Unique ID:
10.1002/acn3.51464
PMID:
34612606
DOI:
10.1002/acn3.51464
Journal:
Annals of Clinical and Translational Neurology
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View Web of Science Record
View OpenAlex Record

Record Created: