Background Wolfram syndrome (WS), a rare genetic disorder, is considered the best
prototype of endoplasmic reticulum (ER) diseases. Classical WS features are childhood …

Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy,
sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the …

Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by
autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13 …

This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an
autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus …

Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with
phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic …

Background Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence
of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is …

Aims/hypothesis Wolfram syndrome is a rare, autosomal recessive syndrome characterised
by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the …

A single base changes causing a change to the amino acid sequence of the encoded
protein, which is defined as non-synonymous single nucleotide polymorphisms (nsSNPs) …

Background Alström syndrome (ALMS;# 203800) is an ultrarare monogenic recessive
disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a …