A novel missense variant in thePNPLA1gene underlies congenital ichthyosis in three consanguineous families

A homozygous missense variant in type I keratinKRT25causes autosomal recessive woolly hair

(2015) Muhammad Ansar et al.   JOURNAL OF MEDICAL GENETICS

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

(2014) Sabba Mehmood et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

(2013) L. Fachal et al.   BRITISH JOURNAL OF DERMATOLOGY

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

(2013) Franz P. W. Radner et al.   PLoS Genetics

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Autosomal Recessive Congenital Ichthyosis

(2009) Judith Fischer   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions

(2008) Petra C. Kienesberger et al.   JOURNAL OF LIPID RESEARCH