• "Laurin-Sandrow Syndrome - a review of the literature and classification system"
• A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle
• A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment
• A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
• A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome
• A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
• A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother
• A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect
• A variant form of Laurin-Sandrow syndrome in an adult patient
• Aesthetic shoulder reconstruction using hypoplastic tissue in a patient with phocomelia - A case report
• Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
• Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study
• An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage
• An exploratory qualitative investigation of psychosocial determinants of parental decisions to support sport participation for youth with a mobility impairment
• Anesthetic management in an infant with tetra-amelia syndrome with congenital maxillomandibular fusion: A case report
• Art and Pediatric Orthopaedics: The Master of Alkmaar and an Act of Mercy
• Bilateral congenital deficiency of tibia: a case report
• Bilateral tibial agenesis and syndactyly in a cat
• Case report: The evolving phenotype of <em>ESCO2</em> spectrum disorder in a 15-year-old Malaysian child
• Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesion
• Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations
• Congenital Ankylosis of the Knee Treated with Van Nes Rotationplasty: A Case Report
• Congenital limb deficiency disorders
• Congenital Synostosis of the Knee: Long-term Outcomes of Limb Reconstruction Surgery
• Congenital tibial hemimelia
• Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia
• Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome
• Esco2 and cohesin regulate CRL4 ubiquitin ligase <em>ddb1</em> expression and thalidomide teratogenicity
• Etiology and pathogenesis of the cohesinopathies
• Expanding the mutation and clinical spectrum of Roberts syndrome
• False-positive pregnancy tests in females of reproductive potential receiving lenalidomide in the United States
• Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome
• FIBULAR HEMIMELIA: A RARE CASE REPORT
• Fronto-Orbital Advance in a Patient With Roberts Syndrome
• Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations
• Functional outcomes in bilateral upper limb Amelia patient with scoliosis post vertical expandable prosthetic titanium rib (VEPTR) application: A case report
• Genetically induced redox stress occurs in a yeast model for Roberts syndrome
• Holt Oram syndrome: a registry-based study in Europe
• Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
• How many roads lead to cohesinopathies?
• Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
• Identify the syndrome?
• Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome
• Infant born with Robert's syndrome without prenatal care in a developing nation
• Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary
• Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing
• Intrapartum diagnostic of Roberts syndrome - case presentation
• Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
• Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2
• Laurin-Sandrow syndrome
• Laurin-Sandrow Syndrome: A Case Report and Review of Literature
• Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
• Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods
• Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
• Mermaid syndrome associated with VACTERL-H syndrome
• Mermaid syndrome: Rare genetic anomaly
• Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome
• Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2
• Non-syndromic phocomelia: A rare case report signifying prenatal screening
• Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones
• Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report
• Pseudo-Roberts Syndrome: An Entity or Not?
• Radiological Insight into the Mermaid Syndrome: An Exploration of a Rare Anomaly
• Re-examining the nomenclature of congenital failure of formation in the upper limb: a historical perspective
• Report of the Phenotype of a Patient with Roberts Syndrome and a Rare <em>ESCO2</em> Variant
• Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant
• Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
• Roberts Syndrome With a Bilateral Cleft Lip and Palate
• ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION
• Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
• SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate
• Sirenomelia (Mermaid Syndrome): A Case Report
• Sirenomelia (mermaid syndrome): a rare congenital disorder
• Sirenomelia and severe caudal regression syndrome
• Sirenomelia associated with an anterior abdominal wall defect: a case report
• Sirenomelia or mermaid syndrome
• Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report
• Sirenomelia with associated systemic anomalies - an autopsy report in a full term neonate
• Sirenomelia, case report and review of the literature
• Sirenomelia: A Case Report
• Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies
• Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome
• Sirenomelia: An anatomical assessment and genetic sex determination of two cases
• Sirenomelia: Review of a Rare Syndrome with Case Report, Review of Anatomy, and Thoughts on Management
• Sirenomelia: two case reports
• Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
• Targeting ectromelia virus and TNF/NF-kappaB or STAT3 signaling for effective treatment of viral pneumonia
• Targeting ectromelia virus and TNF/NF-κB or STAT3 signaling for effective treatment of viral pneumonia
• Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome
• The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
• The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis
• The teratogenic effects of thalidomide on limbs
• The TRAP (twin reversed arterial perfusion) sequence - case presentation
• Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon
• Tibial hemimelia associated with GLI3 truncation
• Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia
• Unique Roberts syndrome with bilateral congenital glaucoma: A case report
• Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis
• Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects
• Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome