Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4-Reference-Cited by-同舟云学术

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4

Published:2020-05-20 Issue:8 Volume:182 Page:1861-1864
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Moretti Patricia N.¹,Figueiredo Ana Carolina V.²,Saliba Aline²³,Versiani Beatriz R.³⁴,Oliveira Silviene F.²⁵,Pic‐Taylor Aline¹⁵,Mazzeu Juliana F.¹²⁶^ORCID

Affiliation:

1. Programa de Pós‐Graduação em Ciências Médicas, Faculdade de MedicinaUniversidade de Brasília Brasília Brazil

2. Programa de Pós‐Graduação em Ciências da Saúde, Faculdade de MedicinaUniversidade de Brasília Brasília Brazil

3. Secretaria de Estado de Saúde do Distrito Federal Brasília Brazil

4. Hospital Universitário de Brasília Brasília Brazil

5. Instituto de Ciências BiológicasUniversidade de Brasília Brasília Brazil

6. Faculdade de MedicinaUniversidade de Brasília Brasília Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Ministério da Saúde

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61620

Reference12 articles.

1. Formation of new chromatin domains determines pathogenicity of genomic duplications

2. A novel 2q37 microdeletion containing human neural progenitors genes includingSTK25results in severe developmental delay, epilepsy, and microcephaly

3. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

4. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor;Le T. N.;American Journal of Medical Genetics. Part A,2019

5. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

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1. Deciphering the roles of subcellular distribution and interactions involving the MEF2 binding region, the ankyrin repeat binding motif and the catalytic site of HDAC4 in Drosophila neuronal morphogenesis;BMC Biology;2024-01-02

2. Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review;Genes;2023-02-11

3. Genotype-Phenotype Correlation of Distal 2q37 Deletions;Cytogenetic and Genome Research;2022