Review
Published on 06 Mar 2017
Skeletal Dysplasias: Growing Therapy for Growing Bones
in Obstetric and Pediatric Pharmacology
Frontiers in Pharmacology
doi 10.3389/fphar.2017.00079
- 12,299 views
- 10 citations
12 articles related to "Skeletal Dysplasias"
Articles
Original Research
Published on 03 Mar 2022
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
in Bone Research
Frontiers in Endocrinology
doi 10.3389/fendo.2022.845889
- 3,975 views
- 3 citations
Review
Published on 09 Apr 2020
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders
in Bone Research
Frontiers in Endocrinology
doi 10.3389/fendo.2020.00165
- 16,159 views
- 109 citations
Original Research
Published on 07 Sep 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2021.715042
- 5,438 views
- 10 citations
Original Research
Published on 13 Jan 2023
Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1020475
- 2,913 views
- 4 citations
Original Research
Published on 10 Mar 2025
Unraveling the complexity of skeletal dysplasias in the national health system
in Cellular Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2025.1523737
- 3,763 views
- 2 citations
Brief Research Report
Published on 02 Jun 2021
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.680838
- 4,553 views
- 10 citations
Original Research
Published on 24 Sep 2021
Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.722694
- 5,328 views
- 8 citations
Original Research
Published on 10 Sep 2021
Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.728544
- 6,657 views
- 28 citations
Case Report
Published on 11 Jun 2025
Case Report: Holistic approach to management of an infant with severe osteogenesis imperfecta in the neonatal intensive care unit
in Neonatology
Frontiers in Pediatrics
doi 10.3389/fped.2025.1475545
- 2,918 views
Original Research
Published on 27 Feb 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1032346
- 15,831 views
- 19 citations
Review
Published on 30 May 2025
Coping and quality of life of parents of children with achondroplasia—a narrative review
in Family Medicine and Primary Care
Frontiers in Medicine
doi 10.3389/fmed.2025.1500389
- 3,015 views