(Q51898506)

17 April 2018

title

Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study. (English)

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17 April 2018

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Antonio Trabacca

1

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17 April 2018

Luciana Losito

series ordinal

2

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17 April 2018

Marta De Rinaldis

series ordinal

3

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17 April 2018

Leonarda Gennaro

series ordinal

4

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17 April 2018

publication date

4 October 2010

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17 April 2018

Journal of Child Neurology

published in

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17 April 2018

volume

26

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17 April 2018

issue

2

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17 April 2018

page(s)

235-238

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17 April 2018

The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

The floppy infant: contribution of genetic and metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Deletion 22q13.3 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Novel member of the zinc finger superfamily: A C2-HC finger that recognizes a glia-specific gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Pathophysiology of pediatric movement disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Congenital hypotonia: is there an algorithm?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

The evaluation of the hypotonic infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

Congenital hypotonia with favorable outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810381444

21 January 2018

Identifiers

DOI

10.1177/0883073810381444

1 reference

17 April 2018

PubMed ID

20921566

1 reference

17 April 2018