• Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
• Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene <em>PTDSS1</em> in skeletal cell lineages
• Anesthesia and analgesia for pectus excavatum surgery
• Clonal cytopenia of undetermined significance (CCUS) with dysplasia is enriched for MDS-type molecular findings compared to CCUS without dysplasia
• De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
• Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta
• Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development
• Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies
• Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care
• Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification
• FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies
• Gastrointestinal problems in patients who have type-III osteogenesis imperfecta
• Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016
• Hypoparathyroidism and Pseudohypoparathyroidism
• Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Varadi syndrome)
• Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families
• Metabolism of Thyroid Hormone
• Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
• Muencke syndrome with cleft lip and palate
• Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes
• Neurocranial growth in the OIM mouse model of osteogenesis imperfecta
• Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
• Osteogenesis Imperfecta
• Osteogenesis imperfecta. A study of 160 family members
• Pediatric Implications of Normal Insulin-GH-IGF Axis Physiology
• Pediatric Implications of Normal Insulin-GH-IGF-Axis Physiology
• Posterior Cranial Vault Manifestations in Nonsyndromic Sagittal Craniosynostosis
• Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling
• Quality of life and satisfaction in surgical versus conservative treatment of nonsyndromic children with craniosynostosis
• Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections
• Severe Cloverleaf Skull Deformity in c.1061C&gt;G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome
• SHP2 regulates osteoclastogenesis by promoting preosteoclast fusion
• SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes
• Surgical management of aortic dissection in patients with the Marfan syndrome
• The Association of a Single Nucleotide Variant in <em>COL5A1</em> to Early Onset Keratoconus and Pectus Excavatum-Convergence of Extracellular Matrix Pathologies
• Thyroid Hormones in Brain Development and Function
• Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q