Associated Papers
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep.
Liang B et al.
Journal of Advanced Research, 2024
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.
Yu X et al.
The Journal of Investigative Dermatology, 2018
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D et al.
Plos One, 2014
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
Fujimoto A et al.
The Journal of Investigative Dermatology, 2012
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
Shimomura Y et al.
American Journal of Human Genetics, 2010
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