Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases-Reference-Cited by-同舟云学术

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases

Published:2022-11-23 Issue:2 Volume:191 Page:605-611
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:

Rimoldi Martina¹,Rinaldi Berardo¹,Villa Roberta¹,Cerasani Jacopo²,Beltrami Benedetta¹^ORCID,Iascone Maria³^ORCID,Silipigni Rosamaria⁴,Boito Simona⁵,Gangi Silvana²,Colombo Lorenzo²,Porro Matteo⁶,Cesaretti Claudia¹,Bedeschi Maria Francesca¹^ORCID

Affiliation:

1. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Medical Genetics Unit Milan Italy

2. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano Milan Italy

3. Ospedale Papa Giovanni XXIII Laboratory of Medical Genetics Bergamo Italy

4. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Laboratory of Medical Genetics Milan Italy

5. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Fetal Medicine and Surgery Service Milan Italy

6. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Pediatric Physical Medicine and Rehabilitation Unit Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63054

Reference50 articles.

1. The BAF complex in development and disease

2. Nonsense variants of STAG2 result in distinct congenital anomalies

3. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

4. Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesis

5. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms