Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
B Bea-Mascato, D Valverde - Journal of Medical Genetics, 2024 - jmg.bmj.com
Background Alström syndrome (ALMS;# 203800) is an ultrarare monogenic recessive
disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a …
disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a …
Hearing loss in Africa: current genetic profile
SM Adadey, E Wonkam-Tingang, ET Aboagye… - Human genetics, 2022 - Springer
Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported
to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …
to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …
[HTML][HTML] Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
NM Kamal, AN Sahly, B Banaganapalli… - Saudi journal of …, 2020 - Elsevier
Alström syndrome (AS, OMIM ID 203800) is a rare childhood multiorgan disorder, which is
widely studied in non-Arab ethnic patients. The clinical and molecular basis of AS and the …
widely studied in non-Arab ethnic patients. The clinical and molecular basis of AS and the …
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
K Rethanavelu, JLF Fung, JFT Chau… - American Journal of …, 2020 - Wiley Online Library
Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the
ALMS1 (Alström Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated …
ALMS1 (Alström Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated …
Spectrum of genetic diseases in Tunisia: Current situation and main milestones achieved
N Mezzi, O Messaoud, R Mkaouar, N Zitouna… - Genes, 2021 - mdpi.com
Genetic diseases in Tunisia are a real public health problem given their chronicity and the
lack of knowledge concerning their prevalence and etiology, and the high rates of …
lack of knowledge concerning their prevalence and etiology, and the high rates of …
Meta-analysis of genotype-phenotype associations in Alström syndrome
B Bea-Mascato, D Valverde - medRxiv, 2022 - medrxiv.org
Introduction Alström syndrome (ALMS,# 203800) is an ultra-rare monogenic recessive
disease. This the syndrome is associated with mutations in the ALMS1 gene, which codes …
disease. This the syndrome is associated with mutations in the ALMS1 gene, which codes …
[引用][C] Defining the cardiovascular phenotype of adults with Alstrom Syndrome
MA Faheem, B Azeem - International …, 2024 - internationaljournalofcardiology.com
We would like to contribute some comments on this important piece of literature. Firstly, the
article does not mention the family history of the included patients. The significance of family …
article does not mention the family history of the included patients. The significance of family …