Novel <scp> BMP1 </scp> , <scp> CRTAP </scp> , and <scp> SERPINF1 </scp> variants causing autosomal recessive osteogenesis imperfecta-Reference-Cited by-同舟云学术

Novel BMP1 , CRTAP , and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta

Published:2022-06-15 Issue:3 Volume:102 Page:242-243
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Kuptanon Chulaluck¹²,Thamkunanon Verasak³,Srichomthong Chalurmpon⁴⁵,Theerapanon Thanakorn⁶,Suphapeetiporn Kanya⁴⁵^ORCID,Porntaveetus Thantrira⁶,Shotelersuk Vorasuk⁴⁵^ORCID

Affiliation:

1. Department of Pediatrics Queen Sirikit National Institute of Child Health Bangkok Thailand

2. Department of Pediatrics College of Medicine, Rangsit University Bangkok Thailand

3. Department of Orthopedics Queen Sirikit National Institute of Child Health Bangkok Thailand

4. Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand

5. Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, The Thai Red Cross Society Bangkok Thailand

6. Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry Chulalongkorn University Bangkok Thailand

Funder

Health Systems Research Institute

National Research Council of Thailand

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14172

Reference5 articles.

1. Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

2. A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

3. CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

4. Long-term follow-up in osteogenesis imperfecta type VI

5. Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

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1. Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants;The Journal of Clinical Endocrinology & Metabolism;2024-01-12