Clinical and molecular characterization of four patients with Robinow syndrome from different families-Reference-Cited by-同舟云学术

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Clinical and molecular characterization of four patients with Robinow syndrome from different families

Published:2021-01-26 Issue:4 Volume:185 Page:1105-1112
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rai Archana¹,Patil Siddaramappa J.²^ORCID,Srivastava Priyanka³,Gaurishankar Kalpana⁴,Phadke Shubha R.¹^ORCID

Affiliation:

1. Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India

2. Division of Medical Genetics Narayana Hrudayalaya Hospitals, Mazumdar‐Shaw Medical Center Bangalore India

3. Genetic Metabolic Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research Chandigarh India

4. Department of Medical Genetics Apollo Hospitals and Kanchi Kamakoti Childs Trust Hospital Chennai India

Funder

Department of Biotechnology, Government of West Bengal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62082

Reference24 articles.

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

2. An osteosclerotic form of Robinow syndrome

3. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

4. Bilateral Conductive Hearing Impairment With Hyperostosis of the Temporal BoneA New Finding in Robinow Syndrome

5. Understanding the patterns of injuries related to endotracheal intubation

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2. Optimal membership function based fuzzy proportional–integral controller for power control of molten salt breeder reactor core;Progress in Nuclear Energy;2023-07

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. Design of a fuzzy-based proportional integral derivative controller with optimal membership function scaling for respiratory ventilation system;Biomedical Signal Processing and Control;2022-09

5. A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review;Molecular Genetics & Genomic Medicine;2022-02-09

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