Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form-Reference-Cited by-同舟云学术

Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form

Published:2020-09-05 Issue:11 Volume:182 Page:2632-2640
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Shayota Brian J.¹^ORCID,Zhang Chaofan¹,Shypailo Roman J.²,Mazzeu Juliana F.³^ORCID,Carvalho Claudia M. B.¹^ORCID,Sutton V. Reid¹⁴^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Department of Pediatrics Baylor College of Medicine Houston Texas USA

3. Division of Clinical Medicine University of Brasília Brasília Brazil

4. Texas Children's Hospital Houston Texas USA

Funder

National Human Genome Research Institute

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61843

Reference25 articles.

1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

2. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

3. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

4. An osteosclerotic form of Robinow syndrome

5. Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

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1. Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome;Disease Models & Mechanisms;2024-06-01

2. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia;The American Journal of Human Genetics;2023-09

3. Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome;Disease Models & Mechanisms;2023-04-01

4. Nuclear Dishevelled: An enigmatic role in governing cell fate and Wnt signaling;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2022-10

5. Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome;Human Mutation;2022-05-10