Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review-Reference-Cited by-同舟云学术

Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

Published:2020-10-14 Issue:1 Volume:185 Page:73-82
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Sabir Ataf H.¹²³^ORCID,Sheikh Jameela³,Singh Ananya³,Morley Elizabeth⁴,Cocca Alessandra⁵^ORCID,Cheung Moira S.⁵,Irving Melita¹

Affiliation:

1. Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust London UK

2. Department of Clinical Genetics Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners Birmingham UK

3. Medical School University of Birmingham Birmingham UK

4. Department of Trauma and Orthopaedics The Royal Wolverhampton NHS Trust Wolverhampton UK

5. Department of Paediatric Endocrinology Guy's and St Thomas' NHS Foundation Trust London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61912

Reference27 articles.

1. A diagnosis of hypochondroplasia by next generation sequencing

2. p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype

3. BioMarin Pharmaceutical. (2020).A multicenter multinational clinical assessment study for pediatric patients with achondroplasia. Retrieved fromhttps://clinicaltrials.gov/ct2/show/NCT01603095

4. GeneReviewsBober M. B. Bellus G. A. Nikkel S. M. &Tiller G. E.(1999).Hypochondroplasia. In .University of Washington. Retrieved from.https://www.ncbi.nlm.nih.gov/books/NBK1477/pdf/Bookshelf_NBK1477.pdf

5. Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

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