Neonatal encephalopathy in two boys in families with recurrent Rett syndrome

Journal of Child Neurology

Volumn 13, Issue 5, 1998, Pages 229-231

  Schanen, N Carolyn ^a   Kurczynski, Thaddeus W ^b   Brunelle, David ^c   Woodcock, Maureen M ^d,e   Dure IV, Leon S ^f   Percy, Alan K ^f  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MEDICAL COLLEGE OF OHIO   (United States)

^c Mary Bridge Children's Hospital   (United States)

^d Nottingham Press   (United States)

^e University of Alabama at Birmingham   (United States)

^f School of Medicine ^*

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE LOCUS; HUMAN; INFANT; MALE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; X CHROMOSOME;

EID: 0031831762     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389801300507     Document Type: Article

References (8)

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2. Zoghbi H: Genetic aspects of Rett syndrome. J Child Neurol 1988;3(Suppl 2):S76-S78.
3. Philippart M: The Rett syndrome in males. Brain Dev 1990; 12: 33-36.
4. Topcu M, Topaloglu H, Renda Y, et al: The Rett syndrome in males. Brain Dev 1991;13:62.
5. Ruch A, Kurczynski TW, Velasco ME: Mitochondrial alterations in Rett syndrome. Pediatr Neurol 1989;5:320-323.
6. Schanen NC, Dahle EJR, Capozzoli F, et al: A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 1997;61:634-641.
7. Comings DE: The genetics of Rett syndrome: The consequences of a disorder where every case is a new mutation. Am J Med Genet Suppl 1986;1:383-388.
8. Thomas GH: High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 1996;58: 1364-1368.