Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders-Reference-Cited by-同舟云学术

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Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Published:2019-05-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wojcik Monica H.¹²^ORCID,Linnea Kate³,Stoler Joan M.¹,Rappaport Leonard³

Affiliation:

1. Division of Genetics and Genomics, Department of PediatricsBoston Children's Hospital Boston Massachusetts

2. Division of Newborn Medicine, Department of PediatricsBoston Children's Hospital Boston Massachusetts

3. Division of Developmental Medicine, Department of PediatricsBoston Children's Hospital Boston Massachusetts

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61189

Reference10 articles.

1. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism;Alazami A. M.;Human Mutation,2012

2. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome;Dateki S.;Human Genome Variation,2018

3. Parents' perceptions of functional abilities in people with Down syndrome;Graaf G.;American Journal of Medical Genetics. Part A,2018

4. Broadening the phenotypic spectrum of pathogenic LARP7 variants: Two cases with intellectual disability, variable growth retardation and distinct facial features;Hollink I. H.;Journal of Human Genetics,2016

5. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency;Holohan B.;BMC Genomics,2016

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report;Journal of Clinical, Medical and Experimental Images;2024-05-07

2. A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami;Child Neurology Open;2023-01

3. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families;Neuropediatrics;2022-09-20

4. Further phenotypic delineation of Alazami syndrome;American Journal of Medical Genetics Part A;2022-05-14

5. Patient with Phenylketonuria and Intellectual Disability—Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome);International Journal of Environmental Research and Public Health;2022-02-24

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