Broadening the phenotypic spectrum of <i>TUBA1A</i> tubulinopathy to syndromic arthrogryposis multiplex congenita-Reference-Cited by-同舟云学术

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Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

Published:2022-06-10 Issue:8 Volume:188 Page:2331-2338
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Weber Mathilde¹²^ORCID,Jaber Dana³,Encha‐Razavi Ferechte¹,Julien Emmanuel⁴,Grevoul‐Fesquet Julie⁵,Steffann Julie⁶,Melki Judith³,Martinovic Jelena¹³

Affiliation:

1. Unit of Embryo‐Fetal Pathology AP‐HP, Antoine Béclère Hospital Clamart France

2. Department of Obstetrics and Gynecology AP‐HP, Antoine Béclère Hospital Clamart France

3. Institut National de la Santé et de la Recherche Médicale (Inserm), UMR‐1195, Université Paris Saclay Le Kremlin Bicêtre France

4. Department of Obstetrics and Gynecology CH du Mans Le Mans France

5. Department of Obstetrics and Gynecology CH Sud Francilien Corbeil‐Essonnes France

6. Department of Molecular Genetics AP‐HP, Necker‐Enfants Malades Hospital, Paris University Paris France

Funder

Agence de la Biomédecine

Association Française contre les Myopathies

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62866

Reference25 articles.

1. Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

2. A method and server for predicting damaging missense mutations

3. TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

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

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