Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome

REFERENCES

1. 1.↵
   1. Gibbons RJ,
   2. Picketts DJ,
   3. Villard L,
   4. et al

   . Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 1995;80:837–45

   CrossRefPubMedWeb of Science
2. 2.↵
   1. Gibbons RJ,
   2. Wada T,
   3. Fisher CA,
   4. et al

   . Mutations in the chromatin-associated protein ATRX. Hum Mutat 2008;29:796–802

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Tsankova N,
   2. Renthal W,
   3. Kumar A,
   4. et al

   . Epigenetic regulation in psychiatric disorders. Nat Rev Neurosci 2007;8:355–67

   CrossRefPubMedWeb of Science
4. 4.↵
   1. Wada T,
   2. Kubota T,
   3. Fukushima Y,
   4. et al

   . Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 2000;94:242–48

   CrossRefPubMed
5. 5.↵
   1. Wada T,
   2. Nakamura M,
   3. Matsushita Y,
   4. et al

   . Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) [in Japanese]. No To Hattatsu 1998;30:283–89

   PubMed
6. 6.↵
   1. Cassidy SB,
   2. Allanson JE

   1. Gibbons RJ

   . ATR-X: a-thalassemia mental retardation-X-linked. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. Hoboken, New Jersey: John Wiley & Sons; 2010:97–109
7. 7.↵
   1. Epstein CJ,
   2. Erickson PP,
   3. Wynshaw-Boris A

   1. Gibbons RJ,
   2. Wada T

   . ATRX and the X-linked a-thalassemia mental retardation syndrome. In: Epstein CJ, Erickson PP, Wynshaw-Boris A, eds. Inborn Errors of Development. 2nd ed. New York: Oxford University Press; 2008:943–54
8. 8.↵
   1. Bérubé NG,
   2. Mangelsdorf M,
   3. Jagla M,
   4. et al

   . The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest 2005;115:258–67

   CrossRefPubMedWeb of Science
9. 9.↵
   1. Barkovich AJ,
   2. Raybaud C

   1. Barkovich AJ,
   2. Raybaud C

   . Normal development of the neonatal and infant brain, skull, and spine. In: Barkovich AJ, Raybaud C. Pediatric Neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012:20–80
10. 10.↵
    1. Thienpont B,
    2. de Ravel T,
    3. Esch HV,
    4. et al

    . Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet 2007;15:1094–97

    CrossRefPubMed
11. 11.↵
    1. Badens C,
    2. Lacoste C,
    3. Philip N,
    4. et al

    . Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet 2006;70:57–62

    CrossRefPubMedWeb of Science
12. 12.↵
    1. Kernohan KD,
    2. Jiang Y,
    3. Tremblay DC,
    4. et al

    . ATRX partners with cohesion and MeCP2 and contributes to developmental silencing of imprinted genes in the brain. Dev Cell 2010;18:191–202

    CrossRefPubMedWeb of Science