Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)-Reference-Cited by-同舟云学术

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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Published:2014-05-30 Issue:5 Volume:87 Page:461-466
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Basehore M.J.¹,Michaelson-Cohen R.²,Levy-Lahad E.²,Sismani C.³,Bird L.M.⁴,Friez M.J.¹,Walsh T.⁵,Abidi F.¹,Holloway L.¹,Skinner C.¹,McGee S.¹,Alexandrou A.³,Syrrou M.⁶,Patsalis P.C.³,Raymond G.⁷,Wang T.⁸,Schwartz C.E.¹,King M.-C.⁵,Stevenson R.E.¹

Affiliation:

1. Greenwood Genetic Center; Molecular Diagnostic; Greenwood SC USA

2. Shaare Zedek Medical Center; Department of Medical Genetics; Jerusalem Israel

3. The Cyprus Institute of Neurology and Genetics; Cytogenetics and Genomics; Nicosia Cyprus

4. University of California; Dysmorphology/Genetics; San Diego CA USA

5. University of Washington; Medical Genetics; Seattle WA USA

6. University of Ioannina Medical School; Laboratory of General Biology; Ioannina Greece

7. Kennedy Krieger Institute; Baltimore MD USA

8. Johns Hopkins University School of Medicine; Genetic Medicine; Baltimore MD USA

Funder

Duke Endowment

Greenwood Genetic Center Foundation

National Institute of Child Health and Human Development

National Institute of Neurologic Diseases and Stroke

South Carolina Department of Disabilities and Special Needs

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. A newly defined X linked mental retardation syndrome associated with alpha-thalassaemia;Gibbons;J Med Genet,1991

2. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia;Villard;Eur J Hum Genet,1996

3. A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy;Guerrini;Ann Neurol,2000

4. Expanding phenotype of XNP mutations: mild to moderate mental retardation;Yntema;Am J Med Genet,2002

5. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome;Badens;Clin Genet,2006

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2. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature;European Journal of Paediatric Neurology;2022-09

3. X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene;Molecular Genetics & Genomic Medicine;2022-08-13

4. Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report;Journal of Autism and Developmental Disorders;2022-05-20

5. ATR‐X;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

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