Occurrence of Rett syndrome in boys. (Q48856336)

16 February 2018

title

Occurrence of Rett syndrome in boys. (English)

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16 February 2018

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H Leonard

1

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J Silberstein

2

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R Falk

3

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I Houwink-Manville

4

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C Ellaway

5

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L S Raffaele

6

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I W Engerström

7

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C Schanen

8

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publication date

1 May 2001

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Journal of Child Neurology

published in

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16 February 2018

volume

16

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issue

5

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page(s)

333-338

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

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Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.

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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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Rett syndrome in a boy with a 47,XXY karyotype

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10.1177/088307380101600505

21 January 2018

Identifiers

DOI

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16 February 2018

PubMed ID

11392517

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16 February 2018