Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome-Reference-Cited by-同舟云学术

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

Published:2019-11-22 Issue:2 Volume:182 Page:279-288
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rethanavelu Kavitha¹²^ORCID,Fung Jasmine L. F.¹,Chau Jeffrey F. T.¹,Pei Steven L. C.¹,Chung Claudia C. Y.¹,Mak Christopher C. Y.¹,Luk Ho M.³^ORCID,Chung Brian H. Y.¹

Affiliation:

1. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of MedicineThe University of Hong Kong Hong Kong China

2. Clinical Genetic ServicesHospital Kuala Lumpur Kuala Lumpur Malaysia

3. Department of HealthClinical Genetic Service Hong Kong China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61412

Reference27 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence‐Moon‐Bardet‐Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree;Alström C. H.;Acta Psychiatrica et Neurologica Scandinavica,1959

2. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

3. Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome

4. Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

5. Brain involvement in Alström syndrome

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1. Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing;Gene;2024-12

2. Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis;Journal of Medical Genetics;2023-06-15

3. A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome;Frontiers in Genetics;2023-01-04

4. Ocular findings and genetic test in Alström syndrome in childhood;Experimental Eye Research;2022-12

5. Meta-analysis of genotype-phenotype associations in Alström syndrome;2022-10-22