Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy-Reference-Cited by-同舟云学术

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

Published:2019-12-05 Issue:2 Volume:40 Page:276-281
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Cabet Sara¹^ORCID,Putoux Audrey²,Buenerd Annie³,Gueneau Lucie⁴,Reymond Alexandre⁴,Thia Edwin W.H.⁵,Lai Angeline H.M.⁶,Schindewolf Erica M.⁷,Sanlaville Damien²,Lesca Gaetan²,Guibaud Laurent¹

Affiliation:

1. Department of Pediatric and Fetal ImagingHospital Femme Mère Enfant Lyon Bron France

2. Department of GeneticsHospital Femme Mère Enfant Lyon Bron France

3. Department of PathologyHospital Femme Mère Enfant Lyon Bron France

4. Center for Integrative Genomics Lausanne Switzerland

5. Department of Maternal Fetal MedicineKK Women's & Children's Hospital Singapore

6. Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Duke‐NUS Medical SchoolLee Kong Medical School Singapore

7. Center for Fetal Diagnosis and TreatmentChildren's Hospital of Philadelphia Philadelphia PA USA

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5589

Reference8 articles.

1. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

2. Microlissencephaly: A Heterogeneous Malformation of Cortical Development

3. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

4. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

5. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

Cited by 5 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. Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review;Prenatal Diagnosis;2024-09-03

2. Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series;Prenatal Diagnosis;2022-11-28

3. Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses;Prenatal Diagnosis;2022-02-09

4. Two different prenatal imaging cerebral patterns of tubulinopathy;Ultrasound in Obstetrics & Gynecology;2021-03

5. KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature;BMC Medical Genetics;2020-06-26