A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

(2017) Sanna Gudmundsson et al.   HUMAN MOLECULAR GENETICS

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

(2016) Viviana Karina Dalamón et al.   BMC Medical Genetics

ExAC boosts clinical variant interpretation in rare diseases

(2016) Orli G. Bahcall   NATURE REVIEWS GENETICS

Autosomal recessive congenital ichthyoses in the Czech Republic

(2015) H. Bučková et al.   BRITISH JOURNAL OF DERMATOLOGY

Comorbidity in the Tunisian population

(2015) L. Romdhane et al.   CLINICAL GENETICS

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

(2014) Lilia Romdhane et al.   HUMAN HEREDITY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss

(2013) Zied Riahi et al.   GENE

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean

(2013) Kazumitsu Sugiura et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

(2011) Hanan Hamamy et al.   GENETICS IN MEDICINE

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Pendred syndrome in Tunisia

(2010) I. Charfeddine et al.   European Annals of Otorhinolaryngology-Head and Neck Diseases

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

(2008) Pu Dai et al.   GENETICS IN MEDICINE

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

(2008) Matthew L. Herman et al.   HUMAN MUTATION