Three cases of Troyer syndrome in two families of Filipino descent-Reference-Cited by-同舟云学术

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Three cases of Troyer syndrome in two families of Filipino descent

Published:2016-04-26 Issue:7 Volume:170 Page:1780-1785
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Butler Shauna¹,Helbig Katherine L.²,Alcaraz Wendy²,Seaver Laurie H.³,Hsieh David T.¹,Rohena Luis¹

Affiliation:

1. Department of Pediatrics; San Antonio Military Medical Center; JBSA Ft Sam Houston Texas

2. Division of Clinical Genomics; Ambry Genetics; Aliso Viejo California

3. Department of Pediatrics; University of Hawai‘i John A. Burns School of Medicine and Kapi'olani Medical Specialists; Honolulu Hawaii

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37658/fullpdf

Reference19 articles.

1. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep,2015

2. Lack of spartin protein in Troyer syndrome: A loss-of-function disease mechanism;Bakowska;Arch Neurol,2008

3. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy;Ceyhan-Birsoy;Neurology,2013

4. MYO1F as a candidate gene for nonsyndromic deafness, DFNB15;Chen;Arch Otolaryngol Head Neck Surg,2001

5. The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting;Cross;Arch Neurol,1967

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1. Developmental and epileptic encephalopathy produced by the ATP1A2 mutation;S.S. Korsakov Journal of Neurology and Psychiatry;2024

2. The perinatal phenotype of Troyer syndrome: Case report and literature review;American Journal of Medical Genetics Part A;2022-09-22

3. Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature;Pediatric Neurology;2022-05

4. Hereditary Spastic Paraplegia: An Update;International Journal of Molecular Sciences;2022-02-01

5. A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome;Journal of Genetics;2020-06-15

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