(Q52789134)

7 May 2018

title

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome. (English)

1 reference

7 May 2018

author name string

Thipwimol Tim-Aroon

1

1 reference

7 May 2018

Natini Jinawath

2

1 reference

7 May 2018

Weerin Thammachote

3

1 reference

7 May 2018

Praweena Sinpitak

4

1 reference

7 May 2018

Anchalee Limrungsikul

5

1 reference

7 May 2018

Chaiyos Khongkhatithum

6

1 reference

7 May 2018

Duangrurdee Wattanasirichaigoon

7

1 reference

7 May 2018

language of work or name

English

0 references

publication date

1 March 2017

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7 May 2018

American Journal of Medical Genetics

published in

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7 May 2018

volume

173

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7 May 2018

issue

3

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7 May 2018

page(s)

766-770

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7 May 2018

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

De novo mutations in moderate or severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

ClinGen--the Clinical Genome Resource

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38082

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38082

1 reference

7 May 2018

PubMed ID

28211977

1 reference

7 May 2018