A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy-Reference-Cited by-同舟云学术

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Published:2020-09-18 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

D’Amico Adele,Fattori Fabiana,Nicita Francesco,Barresi Sabina,Tasca Giorgio,Verardo Margherita,Pizzi Simone,Moroni Isabella,De Mitri Francesca,Frongia Annalia,Pane Marika,Mercuri Eugenio,Tartaglia Marco,Bertini Enrico

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference18 articles.

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1. Pearls & Oy-sters: Use of Muscle Ultrasound as a Clinical Tool in INPP5K-Related Muscular Dystrophy;Neurology;2024-09-10

2. Knockdown of INPP5K compromises the differentiation of N2A cells;Frontiers in Molecular Neuroscience;2024-03-15

3. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling;The American Journal of Human Genetics;2023-08

4. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function;Development Genes and Evolution;2023-05-15

5. Congenital Muscular Dystrophies;Current Clinical Neurology;2023