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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
TLDR
The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. Expand
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
TLDR
The data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function and show the importance of knowing the carrier and removal status of canine coronavirus. Expand
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
TLDR
None of these mutations were found in 50 controls showing that mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder. Expand
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
TLDR
A previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis is defined. Expand
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
TLDR
It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein. Expand
Nosology and classification of genetic skeletal disorders: 2015 revision
TLDR
The nosology can also serve as a reference for the creation of locus‐specific databases that are expected to help in delineating genotype–phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results. Expand
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
TLDR
The data suggest that TD can be divided into at least two groups (TD1 and TD2) based on the presence of straight or curved femora, and the variable presence of CS and severity of the radiologic and histologic findings in the other substitutions may be due to other genetic, environmental, or stochastic factors. Expand
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
TLDR
It is demonstrated that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal -dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone Dysplasia family. Expand
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
TLDR
These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia and determine accurate recurrences risks to the at-risk couples improves patient care. Expand
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review
TLDR
A four‐generation pedigree with seven individuals affected by PDD, linkage and mutational analysis results, and review the literature demonstrate the autosomal dominant inheritance pattern, remarkable variation in expressivity, and reduced penetrance. Expand
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