A review of Alström syndrome: a rare monogenic ciliopathy
AR Choudhury, I Munonye, KP Sanu… - Intractable & rare …, 2021 - jstage.jst.go.jp
Alström syndrome is a rare monogenic ciliopathy caused by a mutation to the Alström
syndrome 1 (ALMS1) gene. Alström syndrome has an autosomal recessive nature of …
syndrome 1 (ALMS1) gene. Alström syndrome has an autosomal recessive nature of …
[HTML][HTML] Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing
JF Borgio - Archives of Medical Science: AMS, 2023 - ncbi.nlm.nih.gov
More than 25 million DNA variations have been discovered as novel including major alleles
from the Arab population. Exome studies on the Saudi genome discovered> 3000 novel …
from the Arab population. Exome studies on the Saudi genome discovered> 3000 novel …
[HTML][HTML] Identification of a rare Exon 19 skipping mutation in ALMS1 Gene in Alström syndrome patients from two unrelated Saudi families
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by
cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of …
cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of …
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy
K Hanaki, T Kinoshita, M Fujimoto… - Yonago Acta …, 2024 - jstage.jst.go.jp
Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is
inherited as an autosomal recessive trait. It is characterised by a variety of clinical …
inherited as an autosomal recessive trait. It is characterised by a variety of clinical …
[HTML][HTML] Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins
S Ghimire, S Simkhada, S Thapa… - Annals of Medicine and …, 2024 - journals.lww.com
Conclusion: With the prevalence of 1 in million cases Alstrom Hallgren syndrome is one of
the rare genetic disorder with poor prognosis. In our case we present classical findings in …
the rare genetic disorder with poor prognosis. In our case we present classical findings in …
[PDF][PDF] ALSTROM HALLGREN SYNDROME WITH CLASSICAL FINDINGS: A RARE CASE REPORT OF MONOGENIC CILIOPATHY CO-OCCURRENCE IN TWINS.
S Ghimire, S Thapa, K Ghising - Authorea Preprints, 2023 - techrxiv.org
ALSTROM HALLGREN SYNDROME WITH CLASSICAL FINDINGS: A RARE CASE
REPORT OF MONOGENIC CILIOPATHY CO-OCCURRENCE IN TWINS. Clinical Message …
REPORT OF MONOGENIC CILIOPATHY CO-OCCURRENCE IN TWINS. Clinical Message …