Identical <scp> <i>EP300</i> </scp> variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype-Reference-Cited by-同舟云学术

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

Published:2022-03-09 Issue:7 Volume:188 Page:2129-2134
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:

Saettini Francesco¹²^ORCID,Fazio Grazia²,Bonati Maria Teresa³,Moratto Daniele⁴,Massa Valentina⁵,Di Fede Elisabetta⁵,Castiglioni Silvia⁵,Marchetti Daniela⁶,Chiarini Marco⁴,Sottini Alessandra⁷,Iascone Maria⁶,Cazzaniga Giovanni²,Imberti Luisa⁷,Biondi Andrea¹²,Gervasini Cristina⁵,Badolato Raffaele⁸

Affiliation:

1. Pediatric Hematology Outpatient Clinic, Pediatric Department Fondazione MBBM Monza Italy

2. Centro Ricerca M. Tettamanti University of Milano Bicocca, Fondazione MBBM/San Gerardo Hospital Monza Italy

3. Ambulatorio di Genetica Medica Istituto Auxologico Italiano, IRCCS Milano Italy

4. Flow Cytometry Laboratory, Diagnostic Department ASST Spedali Civili Brescia Italy

5. Department of Medical Genetics University of Milan Milan Italy

6. Laboratorio di Genetica Medica ASST‐Papa Giovanni XXIII Bergamo Italy

7. Centro di Ricerca Emato‐oncologica AIL (CREA) ASST Spedali Civili Brescia Italy

8. Pediatrics Clinic and A. Nocivelli Institute for Molecular Medicine A, Department of Clinical and Experimental Sciences University of Brescia, ASST‐Spedali Civili Brescia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62719

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4. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome

5. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

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