(Q50679753)

17 March 2018

title

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. (English)

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17 March 2018

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5

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Hirotomo Saitsu

10

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author name string

Chihiro Ohba

1

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17 March 2018

Shin Nabatame

2

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17 March 2018

Yoshitaka Iijima

3

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17 March 2018

Kiyomi Nishiyama

4

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Mitsuko Nakashima

6

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17 March 2018

Noriko Miyake

7

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17 March 2018

Fumiaki Tanaka

8

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17 March 2018

Keiichi Ozono

9

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17 March 2018

Naomichi Matsumoto

11

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17 March 2018

publication date

13 March 2014

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17 March 2018

Journal of Human Genetics

published in

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17 March 2018

volume

59

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17 March 2018

issue

5

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17 March 2018

page(s)

292-295

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17 March 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2014.18

exact match

0 references

cites work

Rett syndrome: revised diagnostic criteria and nomenclature

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

Neuroimaging features of neurodegeneration with brain iron accumulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

Early motor disturbances in Rett syndrome and its pathophysiological importance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.18

Extrapyramidal involvement in Rett's syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24621584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2014.18

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17 March 2018

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17 March 2018