Disease: Cervicooculoacoustic syndrome
- <em>TBX5</em> variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects
- A Case Report of Thromboembolic Stroke in a Patient with Holt-Oram Syndrome
- A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome
- A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child
- Brainstem hypoplasia in the Wildervanck (cervico-oculo-acoustic) syndrome
- Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome
- Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings
- Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings
- Cervico-oculo-Acoustic syndrome in a male with consanguineous parents
- Correction of a deleterious TBX5 mutation in an induced pluripotent stem cell line (DHMi004-A-1) using a completely plasmid-free CRISPR/Cas 9 approach
- Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome
- Epidemiology of Congenital Hand Differences at a Tertiary Hospital in Southern India - Establishment of a New Registry and Assessment Using Both the Swanson/IFSSH and the Oberg, Manske and Tonkin Classifications
- Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 g
- Holt-Oram Syndrome
- Holt-Oram syndrome: a rare clinical image
- Holt-Oram Syndrome: An Incidental Diagnosis
- Identification of a novel <em>TBX5</em> mutation in a Chinese family with rare symptoms of Holt-Oram syndrome
- Ocular coloboma associated with cervico-oculo-acoustic syndrome
- Preiser's Disease as a Consequence of Scaphoid Hypoplasia After Remote Index Finger Repositioning: A Case Report
- Radial Ray Anomaly with Associated Ventricular Septal Defect - Case Report with Review of Literature
- Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report
- SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary
- Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
- Wildervanck (cervico-oculo-acoustic) syndrome
- Wildervanck or cervico-oculo-acoustic syndrome
- Wildervanck syndrome
- Wildervanck syndrome, cervico-oculo-acoustic syndrome
- Wildervanck syndrome: clinical case report
- Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery
- Xq26.3 microdeletion in a male with Wildervanck Syndrome