ReviewAmerican journal of human genetics2003
Genetic disorders of the skeleton: a developmental approach.
Review in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.Advanced genetics (Hoboken, N.J.) · 2025Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- The Crosstalk Between Cartilage and Bone in Skeletal Growth.Biomedicines · 2024Review
- Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.Molecular genetics & genomic medicine · 2024Article
- Review
- Article
- Polydactyly: Clinical and molecular manifestations.World journal of orthopedics · 2023Review
- Genetics of congenital anomalies of the hand.World journal of orthopedics · 2022Article
- Frequency of skeletal dysplasia in children with short stature presenting to endocrine clinic: An observational study.Journal of family medicine and primary care · 2022Article
- Inhibition of Cdk5 increases osteoblast differentiation and bone mass and improves fracture healing.Bone research · 2022Article
- Four Unusual Cases of Congenital Forelimb Malformations in Dogs.Animals : an open access journal from MDPI · 2021Article
- H3K9ac of TGFβRI in human umbilical cord: a potential biomarker for evaluating cartilage differentiation and susceptibility to osteoarthritis via a two-step strategy.Stem cell research & therapy · 2021Article
- Differences in Steady-State Erythropoiesis in Different Mouse Bones and Postnatal Spleen.Frontiers in cell and developmental biology · 2021Article
- Regulation of the limb shape during the development of the Chinese softshell turtles.Evolution & development · 2020Article
- Lineage-specific differentiation of osteogenic progenitors from pluripotent stem cells reveals the FGF1-RUNX2 association in neural crest-derived osteoprogenitors.Stem cells (Dayton, Ohio) · 2020Article
- Unraveling the Connection between Fibroblast Growth Factor and Bone Morphogenetic Protein Signaling.International journal of molecular sciences · 2018Review
- Article
- Regulation of osteoblast development by Bcl-2-associated athanogene-1 (BAG-1).Scientific reports · 2016Article
- Regulation of Long Bone Growth in Vertebrates; It Is Time to Catch Up.Endocrine reviews · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.