Second report of RING finger protein 113A ( RNF113A) involvement in a Mendelian disorder-Reference-Cited by-同舟云学术

Second report of RING finger protein 113A ( RNF113A) involvement in a Mendelian disorder

Published:2019-12-03 Issue:3 Volume:182 Page:565-569
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Tessarech Marine¹^ORCID,Gorce Magali¹,Boussion Françoise²,Bault Jean‐Philippe³⁴,Triau Stéphane⁵,Charif Majida⁶,Khiaty Salim⁶,Delorme Benoit⁷,Guichet Agnès¹,Ziegler Alban¹⁶,Bris Céline¹⁶,Laquerrière Annie⁸⁹,Fallet‐Bianco Catherine¹⁰,Jacquette Aurélia¹¹,Salhi Houria¹²,Héron Delphine¹³,Reynier Pascal¹⁶,Procaccio Vincent¹⁶,Bonneau Dominique¹⁶,Colin Estelle¹⁶

Affiliation:

1. Department of Biochemistry and GeneticsAngers University Hospital Angers France

2. Department of Obstetrics and GynecologyAngers University Hospital Angers France

3. Department of Gynecology and ObstetricsCHI Poissy‐Saint‐Germain Poissy France

4. Department of Gynecology and ObstetricsCH Bicêtre Kremlin‐Bicêtre France

5. Department of PathologyAngers University Hospital Angers France

6. UMR CNRS 6015‐INSERM 1083 and PREMMIMitovasc Institute Angers France

7. Department of RadiologyAngers University Hospital Angers France

8. Normandie Univ, UNIROUEN, INSERM U1245Normandy Centre for Genomic and Personalized Medicine Rouen France

9. Department of PathologyRouen University Hospital Rouen France

10. Department of NeuropathologySaint Anne Hospital Paris France

11. Clinical Genetics UnitPitié Salpetrière Hospital, APHP Paris France

12. Department of PathologyCochin Saint Vincent de Paul Hospital, APHP Paris France

13. Department of Medical GeneticsTrousseau Hospital, APHP Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61384

Reference18 articles.

1. Identification of 315 genes essential for early zebrafish development

2. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

3. A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair

4. midlife crisis encodes a conserved zinc-finger protein required to maintain neuronal differentiation in Drosophila

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