Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

(2019) Thomas Besnard et al.   GENETICS IN MEDICINE

Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale

(2019) E. Lafabregue et al.   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

(2018) Maria-Teresa Romano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of AHSG with alopecia and mental retardation (APMR) syndrome

(2017) M. Reza Sailani et al.   HUMAN GENETICS

Congenital cataract with LSS gene mutations: a new case report

(2017) Xiaodan Chen et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways

(2015) Matthew A Mitsche et al.   eLife

Fetuin-A acts as an endogenous ligand of TLR4 to promote lipid-induced insulin resistance

(2012) Durba Pal et al.   NATURE MEDICINE

Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality

(2010) M. H. K. Shokeir   CLINICAL GENETICS

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

(2010) K Steindl et al.   CLINICAL GENETICS

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

(2010) AM Alazami et al.   CLINICAL GENETICS

Three siblings with Woodhouse–Sakati syndrome in an Indian family

(2009) George Koshy et al.   CLINICAL DYSMORPHOLOGY

Fetuin-A promotes primary keratinocyte migration: independent of epidermal growth factor receptor signalling

(2009) Xue-Qing Wang et al.   EXPERIMENTAL DERMATOLOGY

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS