Expanding the phenotype of DST ‐related disorder: A case report suggesting a genotype/phenotype correlation-Reference-Cited by-同舟云学术

Expanding the phenotype of DST ‐related disorder: A case report suggesting a genotype/phenotype correlation

Published:2017-08-02 Issue:10 Volume:173 Page:2743-2746
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cappuccio Gerarda¹²^ORCID,Pinelli Michele¹²,Torella Annalaura²³,Alagia Marianna¹,Auricchio Renata¹,Staiano Annamaria¹,Nigro Vincenzo²³,Brunetti‐Pierri Nicola¹²,

Affiliation:

1. Department of Translational Medicine, Section of PediatricsFederico II UniversityNaplesItaly

2. Telethon Institute of Genetics and MedicinePozzuoliNaplesItaly

3. Medical Genetics, Department of Biochemistry, Biophysics and General PathologyUniversity of Campania 'Luigi Vanvitelli'NaplesItaly

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38367

Reference19 articles.

1. A method and server for predicting damaging missense mutations

2. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

3. Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

4. Bone mineralization in children with epidermolysis bullosa

5. Molecular characterization of the genetic lesion in Dystonia musculorum (dt-Alb) mice

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary sensory autonomic neuropathy type VI in the age of genetic testing;Annals of the Child Neurology Society;2024-08-11

2. Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum;PLOS ONE;2023-10-26

3. The DST gene in neurobiology;Journal of Neurogenetics;2023-10-02

4. Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia;Cureus;2023-08-09

5. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy;Clinical Genetics;2023-07-11