Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes - Patricia Okiro, Helen Wainwright, Jürgen Spranger, Peter Beighton, 2015
Short rib-polydactyly syndrome (Saldino-Noonan type) undetected by standard prenatal genetic testing
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short‐rib polydactyly syndrome type III phenotype - Okamoto - 2015 - Congenital Anomalies - Wiley Online Library
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome | Nature Communications
Skeletal Dysplasias. - ppt video online download
Short rib dysplasia without polydactyly in a 23-week fetus. A.... | Download Scientific Diagram
Short Rib Thoracic Dysplasia With or Without Polydactyly | Radiology Key
Figure 2 from Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). | Semantic Scholar
Phenotypic features of short-rib thoracic dystrophy,... | Download Scientific Diagram
Ultrasound of Short Rib-Polydactyly Syndrome
Figure 2 from Majewski syndrome, Short Rib Polydactyly Syndrome (SRPS) type II - a rare case report, with review of literature. | Semantic Scholar
NEK1 mutations cause short-rib polydactyly syndrome type majewski. | Semantic Scholar
Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia - Markova - Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
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 - ScienceDirect
Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene - ScienceDirect
Short rib polydactyly syndrome | Radiology Reference Article | Radiopaedia.org
Toddler returns to Florida hospital after eight-month stay in Philadelphia hospital
Short rib polydactyly syndrome | Radiology Case | Radiopaedia.org
Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes - Patricia Okiro, Helen Wainwright, Jürgen Spranger, Peter Beighton, 2015
Short Rib-Polydactyly Syndrome Type II | SpringerLink
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 - ScienceDirect
Majewski syndrome, Short Rib Polydactyly Syndrome (SRPS) type II - a rare case report, with review of literature. | Semantic Scholar
Asphyxiating thoracic dystrophy: MedlinePlus Genetics
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 - ScienceDirect
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes | Journal of Medical Genetics
Figure 1 from Short rib-polydactyly syndrome: a case report. | Semantic Scholar
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
Majewski syndrome (short‐rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys - Tonni - 2014 - Congenital Anomalies - Wiley Online Library
Short Rib Polydactyly Syndrome Type Iii | Spot Diagnosis | Pediatric Oncall
