A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter.

Knight, Lauren Kerry; McGrath, John; Ozoemena, Linda; Roberts, Riyaadh; Hlela, Carol.

Afiliação

Knight LK; Division of Dermatology, Red Cross Children's Hospital, University of Cape Town, Cape Town, South Africa.
McGrath J; St John's Institute of Dermatology and National Diagnostic Epidermolysis Bullosa Laboratory, London, United Kingdom.
Ozoemena L; St John's Institute of Dermatology and National Diagnostic Epidermolysis Bullosa Laboratory, London, United Kingdom.
Roberts R; Division of Anatomical Pathology, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
Hlela C; National Health Laboratory Services, Johannesburg, South Africa.

JAAD Case Rep ; 35: 22-24, 2023 May.

Article em En | MEDLINE | ID: mdl-37089757