Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1
J Maddhesiya, B Mohapatra - Current cardiology reports, 2024 - Springer
Abstract Purpose of Review Congenital heart disease (CHD) is the most frequently occurring
birth defect. Majority of the earlier reviews focussed on the association of genetic factors with …
birth defect. Majority of the earlier reviews focussed on the association of genetic factors with …
Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder
Z Zhang, Z Kong, M Zhu, W Lu, L Ni, Y Bai… - Molecular biology …, 2016 - Springer
The aim of this study was to characterize a previously uncharacterized genetic disorder
associated with equinus deformity in a large Chinese family at the genetic level. Blood …
associated with equinus deformity in a large Chinese family at the genetic level. Blood …
[HTML][HTML] Ritscher-Schinzel Syndrome
AM Elliott, A Chudley - 2020 - europepmc.org
Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the
cardinal findings of craniofacial features, cerebellar defects, and cardiovascular …
cardinal findings of craniofacial features, cerebellar defects, and cardiovascular …
[PDF][PDF] Anesthetic Considerations and Management of Corpus Callosal Glioma with Bifid Uvula: A Rare Case Report
M Bhardwaj, S Sharma, V Mathur… - Journal of Mahatma …, 2024 - jmgumst.com
Background: Bifid uvula is an anomaly usually seen in infancy and found rarely in adults. It is
an abnormal division in the uvula, which is the tissue hanging down at the end of the soft …
an abnormal division in the uvula, which is the tissue hanging down at the end of the soft …
[HTML][HTML] A Case Report of 3C Syndrome and Literature Review
D Kanikomo, Y Sogoba, M Diallo, MS Diarra… - Case Reports in Clinical …, 2022 - scirp.org
Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental
disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare …
disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare …
[PDF][PDF] A Case Report of 3C Syndrome and Literature
D Kanikomo, Y Sogoba, M Diallo, MS Diarra… - … Hospital Capacity at the …, 2022 - scirp.org
Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental
disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare …
disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare …
[HTML][HTML] Ritscher-Schinzel Syndrome Synonyms: 3C Syndrome, Cranio-Cerebello-Cardiac Dysplasia
MRI Brain - Gene - europepmc.org
Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the
cardinal findings of craniofacial features, cerebellar defects, and cardiovascular …
cardinal findings of craniofacial features, cerebellar defects, and cardiovascular …
[HTML][HTML] Bifid Uvula: Tip of an Ice Berg
J Sharma, N Khanduri, M Chhikara… - Journal of Case …, 2019 - casereports.in
Background: A bifid uvula is an abnormal split or division in the uvula or tissue that hangs
down at the end of soft palate in the roof of mouth. It has lesser amount of muscular tissues …
down at the end of soft palate in the roof of mouth. It has lesser amount of muscular tissues …