Respiratory manifestations in 38 patients with Alström syndrome-Reference-Cited by-同舟云学术

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Respiratory manifestations in 38 patients with Alström syndrome

Published:2016-12-28 Issue:4 Volume:52 Page:487-493
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr Pulmonol.

Author:

Boerwinkle Caroline¹,Marshall Jan D.²³,Bryant Joy⁴,Gahl William A.⁴,Olivier Kenneth N.¹⁵,Gunay‐Aygun Meral⁴

Affiliation:

1. National Institute of Allergy and Infectious DiseasesBethesdaMaryland

2. The Jackson LaboratoryBar HarborMaine

3. Alström Syndrome InternationalMt DesertMaine

4. National Human Genome Research InstituteBethesdaMaryland

5. National Heart, Lung, and Blood InstituteBethesdaMaryland

Funder

National Human Genome Research Institute

National Institute of Allergy and Infectious Diseases

National Heart, Lung, and Blood Institute

National Institutes of Health

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.23607

Reference26 articles.

1. Alstrom Syndrome: Genetics and Clinical Overview

2. Alström Syndrome: Mutation Spectrum ofALMS1

3. Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 Diabetes

4. A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence

5. Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif–containing Proteins C10orf90 and KIAA1731

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1. Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy;Yonago Acta Medica;2024

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

3. Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems;Clinical Case Reports;2023-02

4. Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome;Endocrinology;2023-01-09

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

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