2022
DOI: 10.6065/apem.2222060edi03
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Commentary on “Growth plate extracellular matrix defects and short stature in children”

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Cited by 1 publication
(2 citation statements)
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“…11,12) In a recent study conducted at a single tertiary center, a diagnostic rate of 40.5% was observed, with 15 pathogenic or likely pathogenic variants from 13 different genes found in 37 patients. 13) It is important to note that the inclusion criteria of this study aligned with the indications for genetic analysis mentioned earlier. However, the study has limitations, including a small number of patients, potential selection bias, and nonuniformity of genetic testing methods.With advances in genomic technology, clinical genetic evaluation has become an important tool for elucidating the causes of growth disorders.…”
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confidence: 83%
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“…11,12) In a recent study conducted at a single tertiary center, a diagnostic rate of 40.5% was observed, with 15 pathogenic or likely pathogenic variants from 13 different genes found in 37 patients. 13) It is important to note that the inclusion criteria of this study aligned with the indications for genetic analysis mentioned earlier. However, the study has limitations, including a small number of patients, potential selection bias, and nonuniformity of genetic testing methods.With advances in genomic technology, clinical genetic evaluation has become an important tool for elucidating the causes of growth disorders.…”
mentioning
confidence: 83%
“…Genetic defects are more frequently detected in syndromic short stature or children born small for gestational age [ 11 , 12 ]. In a recent study conducted at a single tertiary center, a diagnostic rate of 40.5% was observed, with 15 pathogenic or likely pathogenic variants from 13 different genes found in 37 patients [ 13 ]. It is important to note that the inclusion criteria of this study aligned with the indications for genetic analysis mentioned earlier.…”
mentioning
confidence: 99%