Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions-Reference-Cited by-同舟云学术

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions

Published:2021-01 Issue:1 Volume:64 Page:104107
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Yu Kris Pui-Tak,Luk Ho-Ming,Fung Jasmine L.F.,Chung Brian Hon-Yin,Lo Ivan Fai-Man

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

1. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Optiz syndrome;Bainbridge;Genome Med.,2013

2. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature;Balasubramanian;J. Med. Genet.,2017

3. Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3;Chinen;Clin. Case Rep.,2017

4. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies;Dinwiddie;BMC Med. Genom.,2013

5. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis;Hastings;Eur. J. Hum. Genet.,2011

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2. Precursor B‐cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge–Ropers syndrome;Pediatric Blood & Cancer;2022-07-11

3. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature;Molecular Genetics & Genomic Medicine;2022-03-11

4. Oral findings and healthcare management in Shashi‐Pena syndrome;Special Care in Dentistry;2021-12-13

5. Case report : a novel ASXL3 gene variant in a Sudanese boy;BMC Pediatrics;2021-12