TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations-Reference-Cited by-同舟云学术

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

Published:2020-06-23 Issue:8 Volume:182 Page:1977-1984
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dentici Maria L.¹^ORCID,Maglione Vittorio¹,Agolini Emanuele²^ORCID,Catena Gino³,Capolino Rossella¹,Lanari Valentina²,Novelli Antonio²,Sinibaldi Lorenzo¹,Vecchio Davide¹,Gonfiantini Michaela V.¹,Macchiaiolo Marina¹^ORCID,Digilio Maria C.¹,Dallapiccola Bruno⁴,Bartuli Andrea¹

Affiliation:

1. Rare Diseases and Medical Genetics UnitBambino Gesù Children's Hospital, IRCCS Rome Rome Italy

2. Laboratory of Medical GeneticsBambino Gesù Children's Hospital, IRCCS Rome Rome Italy

3. Department of OphthalmologyBambino Gesù Children's Hospital, IRCCS Rome Rome Italy

4. Genetics and Rare Diseases Research DivisionBambino Gesù Children's Hospital, IRCCS Rome Rome Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61719

Reference20 articles.

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

2. Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome

3. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

4. Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting fromTUBB3Mutations

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

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