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
- 12,289 views
- 10 citations
30 articles related to "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
- 3,961 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
- 16,130 views
- 109 citations
Original Research
Published on 05 May 2023
Multi-tensor diffusion abnormalities of gray matter in an animal model of cortical dysplasia
in Applied Neuroimaging
Frontiers in Neurology
doi 10.3389/fneur.2023.1124282
- 3,926 views
- 7 citations
Review
Published on 27 Feb 2025
Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health
in Children and Health
Frontiers in Pediatrics
doi 10.3389/fped.2025.1523313
- 5,833 views
- 2 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
- 5,433 views
- 10 citations
Review
Published on 27 Oct 2015
Malformations of the tooth root in humans
in Craniofacial Biology and Dental Research
Frontiers in Physiology
doi 10.3389/fphys.2015.00307
- 65,090 views
- 101 citations
Original Research
Published on 08 Nov 2011
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2011.00061
- 15,182 views
- 35 citations
Review
Published on 21 May 2015
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias
in Neurogenesis
Frontiers in Neuroscience
doi 10.3389/fnins.2015.00181
- 17,736 views
- 56 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
- 2,898 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
- 3,743 views
- 2 citations
Review
Published on 08 Oct 2014
Enamel maturation: a brief background with implications for some enamel dysplasias
in Craniofacial Biology and Dental Research
Frontiers in Physiology
doi 10.3389/fphys.2014.00388
- 26,550 views
- 68 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
- 4,543 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
- 5,320 views
- 8 citations
Case Report
Published on 28 Sep 2022
Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1014188
- 3,289 views
- 4 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
- 6,631 views
- 28 citations