A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism-Reference-Cited by-同舟云学术

A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism

Published:2020-11 Issue:10 Volume:42 Page:771-774
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Yi Xiaoli,Yuan Xinyu,Xie Hua,Chen Xiaoli,Zhu Yanli

Funder

Research Foundation of Capital Institute of Pediatrics

Beijing Municipal Administration of Hospitals Incubating Program

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference14 articles.

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2. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes;Edwards;Brain,2014

3. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly;Bertolacini;Brain Dev,2010

4. Standards and guidelines for the interpretation of sequence variants: a joint consensusrecommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

5. Holoprosencephaly: a clinical genomics perspective;Solomon;Am J Med Genet C Semin Med Genet,2018

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2. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO);Frontiers in Genetics;2022-06-22

3. Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis;Journal of Child Neurology;2021-07-11