A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face-Reference-Cited by-同舟云学术

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

Published:2021-12-13 Issue:3 Volume:101 Page:359-363
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Miyake Noriko¹²^ORCID,Silva Sebastián³^ORCID,Troncoso Mónica⁴,Okamoto Nobuhiko⁵,Andachi Yoshiki⁶⁷,Kato Mitsuhiro⁸,Iwabuchi Chisato¹,Hirose Mio¹,Fujita Atsushi²,Uchiyama Yuri²⁹^ORCID,Matsumoto Naomichi²

Affiliation:

1. Department of Human Genetics Research Institute, National Center for Global Health and Medicine Tokyo Japan

2. Department of Human Genetics Graduate School of Medicine, Yokohama City University Yokohama Japan

3. Child Neurology Service Hospital de Puerto Montt Puerto Montt Chile

4. Child Neurology Service Hospital San Borja Arriarán, Universidad de Chile Santiago Chile

5. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Japan

6. Support Center National Institute of Genetics, Research Organization of Information and Systems Mishima Japan

7. Department of Genetics The Graduate University for Advanced Studies, SOKENDAI Mishima Japan

8. Department of Pediatrics Showa University School of Medicine Tokyo Japan

9. Department of Rare Disease Genomics Yokohama City University Hospital Yokohama Japan

Funder

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14097

Reference12 articles.

1. Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery

2. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

3. Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

4. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

5. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

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