Disease: Craniosynostosis autosomal dominant
- <em>FGF9</em>-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family
- A Case Report on Copper Beaten Skull Appearance: A Forgotten Entity
- A Rare Case of Shprintzen-Goldberg craniosynostosis syndrome with Hirschsprung disorder: Dental characteristics and its Clinical Management
- A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation
- A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the <em>ALPL</em> gene
- Apert syndrome: craniofacial challenges and clinical implications
- Au-Kline Syndrome
- Bryant-Li-Bhoj Neurodevelopmental Syndrome
- Char Syndrome
- Clinical interest of molecular study in cases of isolated midline craniosynostosis
- Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency
- Crouzon syndrome with acanthosis nigricans: a case report and literature review
- Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome
- Exosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice
- Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
- HIST1H1E Syndrome
- Hypophosphatasia
- Hypophosphatemic rickets and short stature
- Muenke Syndrome
- Mysterious Bilateral Foot Pain in a Child With Crouzon Syndrome
- Osteoglophonic Dysplasia
- Pfeiffer Syndrome
- Pfeiffer Syndrome
- Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report
- Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome
- Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit
- Successful reverse total shoulder replacement in a patient with Apert syndrome
- Thanatophoric Dysplasia
- The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants
- Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers
- Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges