KEGG   VARIANT: 7062v1
Entry
7062v1                      Variant                                
Name
TCHH mutation
Type
Loss of function
Gene
TCHH  trichohyalin [KO:K18626]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190370
Network
nt06545  Cornified envelope formation
Disease
H01796  Uncombable hair syndrome
Reference
  Authors
U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
  Title
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
  Journal
Am J Hum Genet 99:1292-1304 (2016)
DOI:10.1016/j.ajhg.2016.10.004
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