Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1 ‐related syndrome-Reference-Cited by-同舟云学术

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1 ‐related syndrome

Published:2020-03-06 Issue:5 Volume:182 Page:1273-1277
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Arts Peer¹^ORCID,Garland Jessica²,Byrne Alicia B.¹³⁴^ORCID,Hardy Tristan S.E.¹⁵⁶^ORCID,Babic Milena¹,Feng Jinghua³⁷,Wang Paul⁷^ORCID,Ha Thuong¹^ORCID,King‐Smith Sarah L.¹⁴,Schreiber Andreas W.³⁷⁸^ORCID,Crawford April⁹,Manton Nick⁹,Moore Lynette⁶⁹,Barnett Christopher P.²⁶,Scott Hamish S.¹³⁶⁷⁴^ORCID

Affiliation:

1. Genetics and Molecular Pathology Research Laboratory, Centre for Cancer BiologyAn Alliance Between SA Pathology and the University of South Australia Adelaide South Australia Australia

2. Paediatric and Reproductive Genetics UnitWomen's and Children's Hospital Adelaide South Australia Australia

3. School of Pharmacy and Medical SciencesUniversity of South Australia Adelaide South Australia Australia

4. Australian Genomics Health Alliance Melbourne Victoria Australia

5. Repromed Dulwich Australia

6. School of MedicineUniversity of Adelaide Adelaide South Australia Australia

7. ACRF Cancer Genomics Facility, Centre for Cancer BiologyAn Alliance Between SA Pathology and the University of South Australia Adelaide South Australia Australia

8. School of Biological SciencesUniversity of Adelaide Adelaide South Australia Australia

9. Department of Anatomical PathologySA Pathology, Women's and Children's Hospital North Adelaide South Australia Australia

Funder

Cancer Council South Australia

Hospital Research Foundation

National Health and Medical Research Council

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61541

Reference20 articles.

1. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

2. Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease;Alankarage D.;Human Molecular Genetics,2019

3. APbx1-dependent genetic and transcriptional network regulates spleen ontogeny

4. The TALE homeodomain of PBX1 is involved in human primary testis‐determination

5. Pbx1 Regulates Self-Renewal of Long-Term Hematopoietic Stem Cells by Maintaining Their Quiescence

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2. Comprehensive overview of the role of PBX1 in mammalian kidneys;Frontiers in Molecular Biosciences;2023-03-17

3. Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing;Genes;2023-01-20

4. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death;Nature Medicine;2023-01

5. Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene;Molecular Cytogenetics;2022-12-21