scholarly journals Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

Genes ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 112 ◽  
Author(s):  
Shazia Micheal ◽  
Ilse Niewold ◽  
Sorath Siddiqui ◽  
Saemah Zafar ◽  
Muhammad Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Recessive Mutation ◽  
Autosomal Recessive Mutation

Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10

2021 ◽  
Vol 14 (12) ◽  
pp. e245484
Author(s):  
David Vaughan ◽  
Adrinda Affendi ◽  
Patrick Sheahan ◽  
Brian Sweeney
Keyword(s):  
Vocal Cord ◽  
Autosomal Recessive ◽  
Vocal Cord Paralysis ◽  
Recessive Mutation ◽  
Speech Disturbance ◽  
Laryngeal Nerves ◽  
Recessive Type ◽  
Autosomal Recessive Mutation ◽  
Recurrent Laryngeal Nerves ◽  
Spinocerebellar Atrophy

Acquired vocal cord paralysis (VCP) is caused by dysfunction or injury of one or both recurrent laryngeal nerves. Here we report a 41-year-old man with spinocerebellar atrophy, autosomal recessive type 10 (SCAR10) due to an autosomal recessive mutation in the ANO10 gene, with VCP as the presenting symptom. He later developed ataxia and speech disturbance.

Fragilitas ossium: a new autosomal recessive mutation in the mouse

1981 ◽  
Vol 72 (6) ◽  
pp. 440-441 ◽  
Author(s):  
J. L. Guenet ◽  
R. Stanescu ◽  
P. Maroteaux ◽  
V. Stanescu
Keyword(s):  
Autosomal Recessive ◽  
Recessive Mutation ◽  
Autosomal Recessive Mutation

Autosomal Recessive Mutation

2017 ◽  
Author(s):  
John H. Duffus ◽  
Michael Schwenk ◽  
Douglas M. Templeton
Keyword(s):  
Autosomal Recessive ◽  
Recessive Mutation ◽  
Autosomal Recessive Mutation

scholarly journals An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response

2015 ◽  
Vol 135 (5) ◽  
pp. 1253-1260 ◽  
Author(s):  
Madoka Kato ◽  
Akira Shimizu ◽  
Yoko Yokoyama ◽  
Kyoichi Kaira ◽  
Yutaka Shimomura ◽  
...  
Keyword(s):  
Stress Response ◽  
Er Stress ◽  
Autosomal Recessive ◽  
Recessive Mutation ◽  
Er Stress Response ◽  
Autosomal Recessive Mutation

Ovine Heritable Arthrogryposis Multiplex Congenita with Probable Lethal Autosomal Recessive Mutation

2010 ◽  
Vol 143 (1) ◽  
pp. 14-19 ◽  
Author(s):  
M.T. Tejedor ◽  
L.M. Ferrer ◽  
L.V. Monteagudo ◽  
J.J. Ramos ◽  
D. Lacasta ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Mutation ◽  
Arthrogryposis Multiplex Congenita ◽  
Autosomal Recessive Mutation
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