Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man-Reference-Cited by-同舟云学术

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Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man

Published:2021-05-04 Issue:7 Volume:185 Page:2164-2167
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Arvio Maria¹²³⁴^ORCID,Lähdetie Jaana⁴

Affiliation:

1. Päijät‐Häme Joint Municipal Authority, Neurology Lahti Finland

2. PEDEGO Oulu University Hospital Finland

3. KTO‐Southwest Special Care Municipal Authority Paimio Finland

4. Department of Child Neurology Turku University, Turku University Central Hospital Turku Finland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62213

Reference12 articles.

1. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

2. Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

3. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

4. The Erlenmeyer flask bone deformity in the skeletal dysplasias

5. Alpha thalassaemia‐mental retardation, X linked;Gibbons R. J.;Orphanet Journal of Rare Diseases,2006

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1. The value of genome-wide analysis in craniosynostosis;Frontiers in Genetics;2024-01-22

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