MAST1-related mega-corpus-callosum syndrome with central hypogonadism-Reference-Cited by-同舟云学术

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MAST1-related mega-corpus-callosum syndrome with central hypogonadism

Published:2023-11 Issue:11 Volume:66 Page:104853
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Sloboda Natacha,Renard Emeline,Lambert Laetitia,Bonnet Céline,Leheup Bruno,Todosi Calina,Schmitt Emmanuelle,Feillet François,Feigerlova Eva,Piton Amélie,Journeau Pierre,Klein Marc,Maillard Louis,Chelly Jamel,Renaud Mathilde

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

1. Evaluating the role of MAST1 as an intellectual disability disease gene: identification of a novel de novo variant in a patient with developmental disabilities;Ben-Mahmoud;J Mol Neurosci MN,2020

2. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment;Boehm;Nat. Rev. Endocrinol.,2015

3. Genomic diagnosis for children with intellectual disability and/or developmental delay;Bowling;Genome Med.,2017

4. Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease;Cangiano;Hum. Genet.,2021

5. Genome sequencing identifies major causes of severe intellectual disability;Gilissen;Nature,2014

Cited by 1 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. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy;International Journal of Molecular Sciences;2023-11-16

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