Disease: Short rib-polydactyly syndrome- Verma-Naumoff type
- Ciliary disorder of the skeleton
- Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia
- Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
- Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism
- Ellis-van Creveld syndrome
- Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing
- Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder
- Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
- Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype
- Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes
- Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene
- Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
- Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus
- Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium
- Radiological and histopathological features of short rib-polydactyly syndrome type III and identification of two novel DYNC2H1 variants
- Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
- Recurrent short rib polydactyly syndrome
- Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome)
- Short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings
- Short rib-polydactyly syndrome, type Verma-Naumoff
- Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases
- Short-rib polydactyly syndrome type III (Verma-Naumoff) in a third-trimester fetus with unusual associations of epiglottic hypoplasia, renal cystic dysplasia, pyelectasia and oligohydramnios
- Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities
- Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk
- Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios
- Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III
- Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study
- WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-kappaB pathway in cilia
- WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia