<scp> <i>OFD1</i> </scp> : One gene, several disorders-Reference-Cited by-同舟云学术

OFD1 : One gene, several disorders

Published:2022-02-02 Issue:1 Volume:190 Page:57-71
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Pezzella Nunziana¹²,Bove Guglielmo²,Tammaro Roberta²,Franco Brunella¹²³^ORCID

Affiliation:

1. Scuola Superiore Meridionale Naples Italy

2. Telethon Institute of Genetics and Medicine (TIGEM) Naples Italy

3. Department of Translational Medical Sciences University of Naples Federico II Naples Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31962

Reference92 articles.

1. Oral‐facial‐digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network;Abramowicz I.;Human Molecular Genetics,2016

2. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

3. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

4. The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression

5. A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia

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