Prenatal imaging features related to <i>RAC3</i> pathogenic variant and differential diagnoses-Reference-Cited by-同舟云学术

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses

Published:2022-02-09 Issue:4 Volume:42 Page:478-481
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Cabet Sara¹²^ORCID,Vasiljevic Alexandre³⁴,Putoux Audrey²⁵,Labalme Audrey⁶,Sanlaville Damien²⁶,Chatron Nicolas²⁶^ORCID,Lesca Gaetan²⁶,Guibaud Laurent¹⁴^ORCID

Affiliation:

1. Imagerie pédiatrique et fœtale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon Bron France

2. Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Université Claude Bernard Lyon 1 Lyon France

3. Centre de pathologie et de neuropathologie Est, Groupement Hospitalier Est, Hospices Civils de Lyon Bron France

4. Hôpital Femme‐Mère‐Enfant, Service d’imagerie pédiatrique et fœtale, Université Claude Bernard Lyon 1 Lyon France

5. Service de génétique ‐ Centre de Référence Anomalies du Développement, Groupement Hospitalier Est, Hospices Civils de Lyon Bron France

6. Service de cytogénétique, Groupement Hospitalier Est, Hospices Civils de Lyon Bron France

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6106

Reference11 articles.

1. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

2. A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

3. Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI

4. Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern

5. Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

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