Long-term follow-up of an individual with ITPR1-related disorder

Am J Med Genet A. 2020 Jul;182(7):1846-1847. doi: 10.1002/ajmg.a.61609. Epub 2020 Jun 4.

Authors

Gerarda Cappuccio^{1

2}, Diletta Apuzzo¹, Paola Passalacqua³, Elena Parrini⁴, Alessandra D'Amico⁵, Tommaso Montini³, Nicola Brunetti-Pierri^{1

2}

Affiliations

¹ Department of Translational Medicine, Federico II University, Naples, Italy.
² Telethon Institute of Genetics and Medicine, Naples, Italy.
³ Pediatric Primary Health Care, Naples, Italy.
⁴ Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital Anna Meyer-University of Florence, Florence, Italy.
⁵ Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.

PMID: 32496011
DOI: 10.1002/ajmg.a.61609

No abstract available

Publication types

Letter
Comment

MeSH terms

Cerebellum / abnormalities
Child
Developmental Disabilities
Follow-Up Studies
Humans
Inositol
Inositol 1,4,5-Trisphosphate Receptors / genetics
Mutation, Missense*
Nervous System Malformations
Phenotype
Spinocerebellar Ataxias*

Substances

ITPR1 protein, human
Inositol 1,4,5-Trisphosphate Receptors
Inositol

Supplementary concepts

Cerebellar Hypoplasia