Disease: Polydactyly
- A case of bilateral asymmetric polydactyly combined with unilateral foot polydactyly
- A case-control study characterizing polydactyly risk factors in Bogota and Cali, Colombia between 2002 and 2020
- A Child with Polydactyly and Seizures
- A Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia
- A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis
- A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report
- A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
- A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia
- A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease
- A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome
- A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
- Acquired Digital Fibrokeratoma: A Report of Five Cases and Review of the Literature
- Affinity-optimizing enhancer variants disrupt development
- Atypical Wassel type VI thumb duplication treated with on-top plasty
- Autonomous and non-cell autonomous role of cilia in structural birth defects in mice
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <em>BBS9</em>
- Bardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant
- Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management
- Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction
- Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A
- Chikungunya virus antepartum transmission and abnormal infant outcomes in a cohort of pregnant women in Nigeria
- Chronic kidney disease on the background of bardet-biedl syndrome: a case report and review of literature
- Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
- Common Pediatric Hand Anomalies
- Complications after radial polydactyly surgery: analysis, prevention and management
- Congenital Hepatic Cyst in Patients With Patau Syndrome: A Rare Clinical Finding
- Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <em>RAD21</em> Detected through Very-High-Resolution Chromosomal Microarray Analysis
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly
- Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
- Diagnosis status and genetic characteristics analysis of Fanconi anemia in China
- Ellis-van Creveld syndrome: a case report
- Epidemiology of birth defects in a national hospital-based birth defect surveillance spot in Southern Jiangsu, China, 2014-2018
- Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
- Experience with Management of Radial Polydactyly: The Multicenter Analysis of 28 Surgical Procedures with Follow-Up
- Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges
- Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
- Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene
- Genetic analysis of two families with Short-rib thoracic dysplasia type 3
- Heterotopic respiratory mucosa as a potential source of ectopic Sonic hedgehog (SHH) in the development of complex radial polydactyly and ulnar dimelia
- Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus
- Identification of labor capacity of fracture of the polydactyly thumb: A case report
- Identification of novel <em>TMEM231</em> gene splice variants and pathological findings in a fetus with Meckel Syndrome
- Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome
- Increasing Sufu gene dosage reveals its unorthodoxical role in promoting polydactyly and medulloblastoma tumorigenesis
- Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis
- Lower Extremity Polydactyly Does Not Disturb Finding One's Feet
- Medical findings and congenital anomalies in Vermeer's paintings
- Modified Bilhaut-Cloquet procedure for Wassel type III-IV polydactyly
- Multilineage differentiation potential in the infant adipose-and umbilical cord-derived mesenchymal stem cells
- Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
- Novel Finding of an Excess Bone in Postaxial Polydactyly of the Foot
- Novel homozygous mutations in TXNDC15 causing Meckel syndrome
- Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
- Number of kinesins engaged in axonal cargo transport: A novel biomarker for neurological disorders
- Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report
- On-Top Osteotomy of the Phalanx Base Combined With Modified Bilhaut: Cloquet Procedure for Atypical Radial Polydactyly
- On-top plasty combined with modified Bilhaut-Cloquet procedure for reconstructing complicated radial polydactyly
- Paternal age and risk for selected birth defects in a large South American sample
- Perinatal prevalence of birth defects in the Mainland of China, 2000-2021: a systematic review and meta-analysis
- Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology
- Polydactyly appeared in early 13th-century Chinese painting
- Polyhydramnios associated with rare genetic syndromes: two case reports
- Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
- Postoperative deviation in Wassel types II and III radial polydactyly: a retrospective analysis of 73 thumbs
- Prenatal Torsion of Radial Polydactyly: A Gangrenous Mass at the Base of the Thumb
- Prenatal ultrasound diagnosis of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome with persistent hyperplastic primary vitreous: a case report
- Prevalence of congenital anomalies according to maternal race and ethnicity, Texas, 1999-2018
- PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient
- Proliferation and Differentiation Potential of Bone Marrow-Derived Mesenchymal Stem Cells From Children With Polydactyly and Adults With Basal Joint Arthritis
- Proteomic Analyses Reveal the Role of Alpha-2-Macroglobulin in Canine Osteosarcoma Cell Migration
- Rapid and Quantitative Functional Interrogation of Human Enhancer Variant Activity in Live Mice
- Recent advances in primary cilia in bone metabolism
- Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
- Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study
- Rosai Dorfman Disease: A Rare Case Report
- Secondary complications in Wassel II & IV thumb duplication: a comprehensive review of preventive measures
- Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
- Streamlined, single-step non-viral CRISPR-Cas9 knockout strategy enhances gene editing efficiency in primary human chondrocyte populations
- Successful coronary angiography via distal radial access in an 82-year-old male patient with polydactyly
- Supporting a Tsonga learner living with Bardet-Biedl syndrome, a rare complex disability
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
- The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report
- The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies
- The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development
- The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
- Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation
- Tourniquet-Related Nerve Injury Following Reconstructive Surgery for Wassel Type IV Preaxial Polydactyly of 13-Year-Old Boy: A Case Report
- Two Novel Frameshift Mutations in the <em>GLI3</em> Gene Underlie Non-Syndromic Polydactyly in Chinese Families
- Unilateral complete fibular dimelia and diplopodia: A case report and literature review
- Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
- Unusual Presentation of Familial Unilateral Postaxial Polydactyly With Metacarpal Delta Phalanx: A Report of a Rare Case
- Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
- Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
- Weyers Acrofacial Dysostosis: A Case Report
- Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs
- Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement
- Whole-Genome Sequencing for Identifying Candidate Genes Related to the Special Phenotypes of the Taihu Dianzi Pigeon