Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 7, 2015-07 ,pp. : 752-753

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair

By  

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Vol. 56, Iss. 3, 2015-08 ,pp. : e66-e70

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

By  

INTERNATIONAL JOURNAL OF DERMATOLOGY, Vol. 54, Iss. 10, 2015-10 ,pp. : 1163-1168

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

By  

INTERNATIONAL JOURNAL OF DERMATOLOGY, Vol. 11-9059, Iss. 10, 2015-10 ,pp. : 1163-1168

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

By Remes Anne   Filppula Sirpa   Rantala Heikki   Leisti Jaakko   Ruokonen Aimo   Sharma Satyan   Juffer André   Hiltunen J.  

Journal of Molecular Medicine, Vol. 82, Iss. 8, 2004-08 ,pp. : 550-554

Springer Publishing Company

Access to resources Recommend Favorite