Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

J Uitto¹, L Youssefian¹, H Vahidnezhad^{1

2}

Affiliations

¹ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
² Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.

Comment

J Uitto et al. Br J Dermatol. 2017 Aug.

. 2017 Aug;177(2):342-343.

doi: 10.1111/bjd.15689.

J Uitto¹, L Youssefian¹, H Vahidnezhad^{1

2}

¹ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
² Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.

No abstract available

Comment on

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717