Disease: Pycnodysostosis
- <em>CTSK</em> variant implicated in suspected pyknodysostosis in a domestic cat
- A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment
- A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
- A First-Case Report of Pycnodysostosis in an Omani Boy
- A Novel Variant c.847T>C in <em>CTSK</em> Gene Leading to Pycnodysostosis: A Case Report
- A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
- A rare case of pycnodysostosis during pregnancy
- A rare case of pycnodysostosis: Technical difficulties in managing long bone fractures
- Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis
- Alternative Method for Full Oral Rehabilitation in Patients with Pycnodysostosis Syndrome: A Case Report
- An Update on Osteomyelitis Treatment in a Pycnodysostosis Patient
- Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery
- Articular cartilage protection in Ctsk<sup>-/-</sup> mice is associated with cellular and molecular changes in subchondral bone and cartilage matrix
- Bilateral Atypical Subtrochanteric Femoral Fractures with Primary and Secondary Bone Healing in Pycnodysostosis
- Bilateral choanal atresia in an adult woman with pycnodysostosis
- Bilateral optic disc edema in a case of pycnodysostosis
- Bilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis
- Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis
- Cathepsin K in Pathological Conditions and New Therapeutic and Diagnostic Perspectives
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned
- Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences
- Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn
- ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth
- Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene
- Clinical and genetic evaluation of Danish patients with pycnodysostosis
- Clinical and radiographic characteristics of pycnodysostosis: A systematic review
- Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems
- Clinical and radiographic features of pycnodysostosis: A case report
- Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series
- Distribution of Cathepsin K in Late Stage of Tooth Germ Development and Its Function in Degrading Enamel Matrix Proteins in Mouse
- Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients
- Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis
- Effects of cathepsin K on Emdogain-induced hard tissue formation by human periodontal ligament stem cells
- Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis
- Family picnodisostosis, report of a case after 10 years of follow-up
- From disease to treatment: from rare skeletal disorders to treatments for osteoporosis
- Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease
- Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review
- Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect
- Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions
- Highly Conserved Arg Residue of ERFNIN Motif of Pro-Domain is Important for pH-Induced Zymogen Activation Process in Cysteine Cathepsins K and L
- Human Genetics of Sclerosing Bone Disorders
- Increased Bone Resorption during Lactation in Pycnodysostosis
- Inherited diseases caused by mutations in cathepsin protease genes
- Intramedullary Canal-creation Technique for Patients with Osteopetrosis
- Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study
- Left clavicular fracture. Pyknodysostosis
- Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis
- Management of long bone fractures in patients with pycnodysostosis
- Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
- Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia
- Multiple long bone fractures in a child with pycnodysostosis. A case report
- Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
- Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T
- Numerous Heinz bodies in a case of infantile pyknocytosis
- Obstructive sleep apnoea in pycnodysostosis: A three-dimensional upper airway analysis
- Oral Lesions in Pycnodysostosis Syndrome: Eleven Years of Follow-Up
- Orthopaedic disorders of pycnodysostosis: a report of five clinical cases
- Orthopedic Treatment of Pycnodysostosis: A Systematic Review
- Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review
- Osteopetrosis: Gene-based nosology and significance
- Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
- Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series
- Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature
- Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
- Pycnodysostosis at otorhinolaryngology
- Pycnodysostosis in an Adult: A Case Report and Review of the Literature
- Pycnodysostosis in children and adults
- Pycnodysostosis presented with tibial shaft fracture
- Pycnodysostosis presenting as atypical stridor
- Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report
- Pycnodysostosis with Osteomyelitis of Maxilla: Case Report of Radiological Analysis
- Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report
- Pycnodysostosis; A Rare Disease Case Report
- Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management
- Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia
- Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters
- Pycnodysostosis: about a case
- Pycnodysostosis: Characteristics of teeth, mouth and jaws
- Pycnodysostosis: Clinicoradiographic Report of a Rare Case
- Pycnodysostosis: mutation spectrum in five unrelated Indian children
- Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
- Pycnodysostosis: Novel Variants in <em>CTSK</em> and Occurrence of Giant Cell Tumor
- Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor
- Pycnodysostosis: the disease of Henri de Toulouse-Lautrec
- Rare Cause of Pathological Fractures: Pycnodysostosis
- Recurrent fractures and an unusual diagnosis: Pycnodysostosis
- Risk of difficult intubation may increase with age in pediatric patients with pycnodysostosis
- Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica)
- Short stature Revealing a Pycnodysostosis: A Case Report
- Sleep-disordered breathing in children with pycnodysostosis
- Surgical treatment of pycnodysostosis associated with pathological tibial fracture : Case report and review of the literature
- The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings
- The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history (including a candidate gene, CCDC120)
- The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
- The syndrome of Toulouse-Lautrec
- Three-dimensional analysis of craniofacial morphology in patients with pycnodysostosis
- Traumatic cervical spine injuries in a patient with pycnodysostosis
- Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach
- Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis