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Cited by 51 publications
(43 citation statements)
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References 38 publications
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“…Half of the children reported in the literature, since these technologies became widely available, have a cytogenetic or molecular diagnosis. Given this reality, DS appears to mirror that of Toriello–Carey syndrome, where high clinical and genetic heterogeneity has led to multiple genetic diagnoses being made without one single unifying causal gene or pathway being implicated (Dikow et al, ; Maddirevula et al, ; Toriello, Colley, & Bamshad, ). This is in contrast to diagnoses such as Noonan syndrome and its closely related conditions (collectively the “Rasopathies”), where there is significant clinical overlap and known genetic heterogeneity converge molecularly on a single common pathway (Stevenson et al, ).…”
Section: Discussionmentioning
confidence: 99%
“…Half of the children reported in the literature, since these technologies became widely available, have a cytogenetic or molecular diagnosis. Given this reality, DS appears to mirror that of Toriello–Carey syndrome, where high clinical and genetic heterogeneity has led to multiple genetic diagnoses being made without one single unifying causal gene or pathway being implicated (Dikow et al, ; Maddirevula et al, ; Toriello, Colley, & Bamshad, ). This is in contrast to diagnoses such as Noonan syndrome and its closely related conditions (collectively the “Rasopathies”), where there is significant clinical overlap and known genetic heterogeneity converge molecularly on a single common pathway (Stevenson et al, ).…”
Section: Discussionmentioning
confidence: 99%
“…Literature search identified two unrelated families from Saudi Arabia with affected individuals with a skeletal phenotype and the biallelic variant c.280C>T in the NEPRO gene (Shaheen et al, , Maddirevula et al, ). Critical re‐evaluation of the published phenotypes (clinical descriptions, photographs, radiographs, and variant) was performed.…”
Section: Methodsmentioning
confidence: 99%
“…Megalocornea was seen in five patients of our series and was not described in previous reports (Abdel‐Hamid et al, ; Howard et al, ; Ilkovski et al, ). However, recently during the course of this study, a patient from Arab ethnicity with PGAP3 mutation is also described to have megalocornea (Maddirevula et al, ). Other findings such as pectus excavatum and undescended testes were seen once in our cohort.…”
Section: Discussionmentioning
confidence: 83%