A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome-Reference-Cited by-同舟云学术

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

Published:2018-04-16 Issue:6 Volume:176 Page:1427-1431
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Paganini Leda¹²^ORCID,Pesenti Chiara¹²,Milani Donatella³,Fontana Laura²,Motta Silvia¹²,Sirchia Silvia Maria⁴,Scuvera Giulietta³,Marchisio Paola³,Esposito Susanna⁵,Cinnante Claudia Maria⁶,Tabano Silvia Maria²,Miozzo Monica Rosa¹²

Affiliation:

1. Division of Pathology; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milano Italy

2. Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Italy

3. Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milano Italy

4. Medical Genetics, Department of Health Sciences; Università degli Studi di Milano; Italy

5. Pediatric Clinic, Department of Surgical and Biomedical Sciences; Università degli Studi di Perugia; Italy

6. Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milano Italy

Funder

Ricerca Corrente 2016

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Genetic analysis of 'PAX6-Negative' individuals with Aniridia or Gillespie syndrome;Ansari;PLoS One,2016

2. Gillespie syndrome: 2 familial cases;Boughamoura;Archives De Pediatrie: Organe Officiel De La Societe Francaise De Pediatrie,2006

3. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant;Carvalho;European Journal of Medical Genetics,2017

4. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome;Dentici;Gene,2017

5. Gillespie syndrome: Two further cases;Donald;Journal of Child Neurology,2006

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3. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design;Movement Disorders;2023-11-14

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5. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders;International Journal of Molecular Sciences;2022-06-16