Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies

2021 ◽  
Author(s):  
Masashi Akiyama
Keyword(s):  
Autosomal Recessive ◽  
Woolly Hair

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

2016 ◽  
Vol 136 (6) ◽  
pp. 1097-1105 ◽  
Author(s):  
Nikolay V. Zernov ◽  
Mikhail Y. Skoblov ◽  
Andrey V. Marakhonov ◽  
Yutaka Shimomura ◽  
Tatyana A. Vasilyeva ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Hair Follicles ◽  
Woolly Hair

scholarly journals Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e93607 ◽  
Author(s):  
Doroteya Raykova ◽  
Joakim Klar ◽  
Aysha Azhar ◽  
Tahir Naeem Khan ◽  
Naveed Altaf Malik ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Woolly Hair ◽  
Recessive Transmission

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

2010 ◽  
Vol 57 (2) ◽  
pp. 132-134 ◽  
Author(s):  
M. Kurban ◽  
S. Ghosn ◽  
O. Abbas ◽  
Y. Shimomura ◽  
A. Christiano
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Woolly Hair ◽  
P2ry5 Gene

scholarly journals 271 Mutation analysis of autosomal recessive woolly hair/ hypotrichosis in 72 Japanese patients

2020 ◽  
Vol 140 (7) ◽  
pp. S33
Author(s):  
R. Hayashi ◽  
A. Fujimoto ◽  
H. Fujikawa ◽  
R. Yokoyama ◽  
S. Shinkuma ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Woolly Hair
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