Neurological phenotype of Potocki–Lupski syndrome-Reference-Cited by-同舟云学术

Neurological phenotype of Potocki–Lupski syndrome

Published:2020-08-15 Issue:10 Volume:182 Page:2317-2324
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ciaccio Claudia¹^ORCID,Pantaleoni Chiara¹^ORCID,Milani Donatella²^ORCID,Alfei Enrico¹³,Sciacca Francesca L.⁴,Canafoglia Laura⁵,Erbetta Alessandra⁶,D'Arrigo Stefano¹

Affiliation:

1. Developmental Neurology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

2. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Pediatria Alta Intensità di Cura Milan Italy

3. Pediatric Neurology Unit—Vittore Buzzi Children's Hospital—ASST Fatebenefratelli‐Sacco Milan Italy

4. Laboratory of Cytogenetic, Neurological Biochemistry and Neuropharmacology Unit, Department of Diagnostic and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

5. Neurophysiology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

6. Department of Neuroradiology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Funder

Fondazione Pierfranco e Luisa Mariani

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61789

Reference18 articles.

1. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

2. Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

3. The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison

4. Stimulant and Antipsychotic Use for Symptom Management of a Patient With Potocki Lupski Syndrome

5. Objective measures of sleep disturbances in children with Potocki–Lupski syndrome

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