A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?-Reference-Cited by-同舟云学术

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Published:2020-04-12 Issue:5 Volume:84 Page:417-422
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Gotta Fabio¹,Lamp Merit¹,Geroldi Alessandro²,Trevisan Lucia¹²^ORCID,Origone Paola¹²,Fugazza Giuseppina³,Fabbri Sabrina⁴,Nesti Claudia⁵,Rubegni Anna⁵,Morani Federica⁵,Santorelli Filippo Maria⁵,Bellone Emilia¹²,Mandich Paola¹²

Affiliation:

1. Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino Genoa Italy

2. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal‐Child Sciences University of Genoa Genoa Italy

3. Hematology Clinic, Ospedale Policlinico IRCCS San Martino Genoa Italy

4. Neurology, Ospedale Policlinico IRCCS San Martino Genoa Italy

5. Molecular Medicine IRCCS Fondazione Stella Maris Pisa Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12384

Reference14 articles.

1. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

2. Expanding the genotypic spectrum of Perrault syndrome

3. Broadening the phenotype of the TWNK gene associated Perrault syndrome

4. Perrault syndrome: Evidence for progressive nervous system involvement

5. Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

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