Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression-Reference-Cited by-同舟云学术

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

Published:2021-10-06 Issue:11 Volume:8 Page:2199-2204
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Towheed Atif¹,Hietanen Christian L.¹,Kamath Vasudeva G.¹,Singh Larry N.²,Ho Angela¹,Engelstad Kristin³^ORCID,Cornett Kayla³^ORCID,Montes Jacqueline⁴^ORCID,De Vivo Darryl⁵^ORCID

Affiliation:

1. Touro College of Osteopathic Medicine Middletown NY 10940

2. Children’s Hospital of Philadelphia Research Institute Philadelphia PA 19104

3. Department of Neurology Columbia University Irving Medical Center New York NY 10032

4. Department of Rehabilitation and Regenerative Medicine (Physical Therapy) Columbia University Irving Medical Center New York NY 10032

5. Department of Neurology and Pediatrics Columbia University Irving Medical Center New York NY 10032

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51464

Reference24 articles.

1. Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

2. A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

3. A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease

4. A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies

5. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

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