| Title : The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant - Kato_2025_Exp.Dermatol_34_e70130 |
| Author(s) : Kato S , Takeichi T , Jojima K , Kato M , Omi M , Tanahashi K , Otsuka A , Muro Y , Kihara A , Akiyama M |
| Ref : Exp Dermatol , 34 :e70130 , 2025 |
| Abstract : |
| PubMedSearch : Kato_2025_Exp.Dermatol_34_e70130 |
| PubMedID: 40545863 |
| Title : Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan - |
| Author(s) : Takeichi T , Tanahashi K , Taki T , Kono M , Sugiura K , Akiyama M |
| Ref : Br J Dermatol , 177 :290 , 2017 |
| PubMedID: 27641630 |
| Gene_locus related to this paper: human-LIPH |
| Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
| Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
| Ref : J Dermatol Sci , 81 :134 , 2016 |
| PubMedID: 26547112 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood - Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
| Author(s) : Tanahashi K , Sugiura K , Takeichi T , Takama H , Shinkuma S , Shimizu H , Akiyama M |
| Ref : J Eur Acad Dermatol Venereol , 27 :1182 , 2013 |
| Abstract : |
| PubMedSearch : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
| PubMedID: 22449147 |
| Gene_locus related to this paper: human-LIPH |