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  • Title: A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.
    Author: Soffer OD, Sidlow R.
    Journal: Am J Med Genet A; 2016 Jul; 170(7):1881-3. PubMed ID: 27090848.
    Abstract:
    Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability (with and without spasticity) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). Males can also manifest an entity known as MECP2-related severe neonatal encephalopathy whose mutations are identical to those in females with RTT. We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT. © 2016 Wiley Periodicals, Inc.
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