A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

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A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

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http://www.wikidata.org/entity/Q52713265

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

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A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

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type

Item

label

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

@en

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

@nl

prefLabel

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

@en

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

@nl

P1476

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

@en

P2093

Aya Goji

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Hiromichi Ito

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Kiyoshi Masuda

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Masako Saito

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Narumi Tokaji

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Rizu Takahashi

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Shoichiro Tange

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Shoji Kagami

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Takuya Naruto

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Tatsuo Mori

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P2860

Rett syndrome: revised diagnostic criteria and nomenclature

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Clinical severity and quality of life in children and adolescents with Rett syndrome

MECP2 mutations in males.

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

P304

699-702

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P31

scholarly article

P356

10.1002/AJMG.A.38595

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P407

English

P433

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P478

176

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P50

Issei Imoto

P577

2018-01-17T00:00:00Z

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P698

29341476

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