• A case of a four-day-old male with Carpenter's syndrome with transposition of great arteries
• A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination
• A molecular dynamics approach on the Y393C variant of protein disulfide isomerase A1
• A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family
• A novel method for measuring and monitoring monobloc distraction osteogenesis using three-dimensional computed tomography rendered images with the "biporion-dorsum sellae" plane. Part II: comparison of measurements before and after distraction
• A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings
• A Rare Case of Carpenter Syndrome and Its Unique Association With Chronic Kidney Disease
• Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes
• Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II)
• Apert syndrome with partial preaxial polydactyly
• Apert's syndrome with polymetatarsia
• Association of schizophrenia and Carpenter syndrome
• Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings
• Biallelic deleterious germline <em>SH2B3</em> variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity
• Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot
• Carpenter syndrome
• Carpenter syndrome
• Carpenter syndrome (acrocephalopolysyndactyly type II)
• Carpenter syndrome (McK 20100, 20102, 27235)
• Carpenter syndrome in a patient from Tanzania
• Carpenter syndrome with normal intelligence and precocious growth
• Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents
• Carpenter syndrome: a case report
• Carpenter syndrome: a review for the craniofacial surgeon
• Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
• Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes
• Carpenter syndrome: natural history and clinical spectrum
• Carpenter syndrome: report of two siblings
• Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence
• Case report: Clinical manifestations and genotype analysis of a child with <em>PTPN11</em> and <em>SEC24D</em> mutations
• Cerebral malformations in Carpenter syndrome
• Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
• Characterization of mouse Dach2, a homologue of Drosophila dachshund
• Co-occurrence of Carpenter syndrome and double outlet right ventricle
• Cole-Carpenter syndrome in a patient from Thailand
• Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
• Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report
• Complex craniosynostosis in the context of Carpenter's syndrome
• Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings
• Craniosynostosis update 1987
• CRTAP mutation in a patient with Cole-Carpenter syndrome
• Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure
• Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function
• Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
• Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
• Fleaborne Typhus-Associated Deaths - Los Angeles County, California, 2022
• Generalized hyperpigmentation of skin: A case of Carpenter syndrome
• Genetic obesity syndromes
• Geographic Distribution of Suspected Alpha-gal Syndrome Cases - United States, January 2017-December 2022
• Health Care Provider Knowledge Regarding Alpha-gal Syndrome - United States, March-May 2022
• Hedgehog signaling update
• Identifying the Misshapen Head: Craniosynostosis and Related Disorders
• Interventions for chronic kidney disease in people with sickle cell disease
• Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D
• Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns
• Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome)
• Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
• Molecular-clinical spectrum of the ATR-X syndrome
• Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
• Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
• New case of Cole-Carpenter syndrome
• Optic neuropathy in Schmidt-Carpenter syndrome
• Oral findings in Carpenter syndrome
• Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus
• P4HB recurrent missense mutation causing Cole-Carpenter syndrome
• Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes
• Planar Cell Polarity Effector Proteins Inturned and Fuzzy Form a Rab23 GEF Complex
• Polydactyly
• Polyglandular Autoimmune Syndrome Type II
• Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly
• Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
• Prenatal findings in carpenter syndrome and a novel mutation in RAB23
• Prenatal sonographic diagnosis of Carpenter syndrome
• Prerenal kidney failure in type 1 diabetes mellitus
• Rab23 and developmental disorders
• RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1
• RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome
• RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
• RAB23 regulates musculoskeletal development and patterning
• Refined gene localization for the Miles-Carpenter syndrome (MCS)
• SAEM issued 4 strong recommendations (high-certainty evidence) for determining cause of acute vestibular syndrome in the ED
• Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report
• Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies
• Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development
• Sudden death in a child with Carpenter Syndrome. Case report and literature review
• Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
• The carpenter syndrome phenotype
• The Drosophila homologue of MEGF8 is essential for early development
• The Greig cephalopolysyndactyly syndrome
• The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
• The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
• Thyroid autoimmunity and polyglandular endocrine syndromes
• Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester
• Transcriptome profile changes in the jejunum of nonhuman primates exposed to supralethal dose of total- or partial-body radiation
• Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia
• Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes
• Urbanisation generates multiple trait syndromes for terrestrial animal taxa worldwide
• Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
• ZC4H2 deletions can cause severe phenotype in female carriers
• ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons