Spliceosomopathies and neurocristopathies: Two sides of the same coin?-Reference-Cited by-同舟云学术

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Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Published:2020-05-21 Issue:8 Volume:249 Page:924-945
ISSN:1058-8388
Container-title:Developmental Dynamics
language:en
Short-container-title:Developmental Dynamics

Author:

Beauchamp Marie‐Claude¹²,Alam Sabrina Shameen²³,Kumar Shruti²³,Jerome‐Majewska Loydie Anne¹²³⁴^ORCID

Affiliation:

1. Department of PediatricsMcGill University Montreal Quebec Canada

2. McGill University Health Centre at Glen Site Montreal Quebec Canada

3. Department of Human GeneticsMcGill University Montreal Quebec Canada

4. Department of Anatomy and Cell BiologyMcGill University Montreal Quebec Canada

Funder

Institute of Genetics

Institute of Human Development, Child and Youth Health

Publisher

Wiley

Subject

Developmental Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/dvdy.183

Reference141 articles.

1. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

2. EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

3. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

4. “Mandibulofacial dysostosis with microcephaly” caused byEFTUD2mutations: Expanding the phenotype

5. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

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