Expanding the phenome and variome of skeletal dysplasia
S Maddirevula, S Alsahli, L Alhabeeb, N Patel… - Genetics in …, 2018 - nature.com
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The skeletal dysplasias: clinical–molecular correlations
The skeletal dysplasias or osteochondrodysplasias are a clinically and genetically
heterogeneous group of disorders of bone and/or cartilage. They are characterized by …
heterogeneous group of disorders of bone and/or cartilage. They are characterized by …
Advances in skeletal dysplasia genetics
KA Geister, SA Camper - Annual review of genomics and …, 2015 - annualreviews.org
Skeletal dysplasias result from disruptions in normal skeletal growth and development and
are a major contributor to severe short stature. They occur in approximately 1/5,000 births …
are a major contributor to severe short stature. They occur in approximately 1/5,000 births …
Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era
S Ikegawa - Journal of human genetics, 2006 - nature.com
Skeletal dysplasia is a group of disorders of the skeleton that result from derangement of
growth, development and/or differentiation of the skeleton. Nearly 300 disorders are …
growth, development and/or differentiation of the skeleton. Nearly 300 disorders are …
A genetic approach to the diagnosis of skeletal dysplasia
S Unger - Clinical Orthopaedics and Related Research®, 2002 - journals.lww.com
The skeletal dysplasias are a large and heterogeneous group of disorders. Currently, there
are more than 100 recognized forms of skeletal dysplasia, which makes arriving at a specific …
are more than 100 recognized forms of skeletal dysplasia, which makes arriving at a specific …
The long and the short of it: developmental genetics of the skeletal dysplasias: Section Editor: Roderick R McInnes e‐mail: mcinnes@ sickkids. on. ca
SD Dreyer, G Zhou, B Lee - Clinical genetics, 1999 - Wiley Online Library
The skeletal dysplasias are a large heterogeneous group of genetic conditions
characterized by abnormal shape, growth, or integrity of bones. Often, there may be …
characterized by abnormal shape, growth, or integrity of bones. Often, there may be …
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India
Genetic heterogeneity, high burden and the paucity of genetic testing for rare diseases
challenge genomic healthcare for these disorders in India. Here we report our experience …
challenge genomic healthcare for these disorders in India. Here we report our experience …
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
Purpose: The purpose of this study was to evaluate the clinical utility of targeted exome
sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia …
sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia …
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
L Sentchordi-Montané, S Benito-Sanz… - European Journal of …, 2021 - academic.oup.com
Objective Next generation sequencing (NGS) has expanded the diagnostic paradigm
turning the focus to the growth plate. The aim of the study was to determine the prevalence …
turning the focus to the growth plate. The aim of the study was to determine the prevalence …
Skeletal dysplasia families: A stepwise approach to diagnosis
A Handa, G Grigelioniene, G Nishimura - Radiographics, 2023 - pubs.rsna.org
Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by
bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders …
bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders …