<scp>SHORT</scp> syndrome in an adult Brazilian patient-Reference-Cited by-同舟云学术

SHORT syndrome in an adult Brazilian patient

Published:2022-01-25 Issue:5 Volume:188 Page:1635-1638
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gonçalves Ana Caroline G.¹,Moretti Patricia N.²,Cordoba Mara S.³,Oliveira Renata S.³,Lopes Fernanda S. C.³,Oliveira Silviene F.¹⁴,Pic‐Taylor Aline¹²⁴^ORCID,Castro Luiz Claudio¹²³⁵,Mazzeu Juliana F.¹²⁵^ORCID

Affiliation:

1. Programa de Pós‐graduação em Ciências da Saúde Universidade de Brasília Brasília Brazil

2. Programa de Pós‐graduação em Ciências Médicas Universidade de Brasília Brasília Brazil

3. Hospital Universitário Universidade de Brasília Brasília Brazil

4. Departamento de Genética e Morfologia, Instituto de Ciências Biológicas Universidade de Brasília Brasília Brazil

5. Faculdade de Medicina Universidade de Brasília Brasília Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Apoio à Pesquisa do Distrito Federal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62660

Reference5 articles.

1. Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

2. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review

3. Proliferation, survival and metabolism: the role of PI3K/AKT/mTOR signalling in pluripotency and cell fate determination

4. SHORT syndrome in two Chinese girls: A case report and review of the literature

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dynamic molecular architecture and substrate recruitment of cullin3–RING E3 ligase CRL3KBTBD2;Nature Structural & Molecular Biology;2024-02

2. SHORT syndrome with microcephaly and developmental delay;American Journal of Medical Genetics Part A;2022-12-14

3. SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum;Current Diabetes Reports;2022-11-19